Structural position:
- Domain Type: Fn3
- Aligned Position: 110
- Secondary Structure Element: e
- Secondary Structure Region: β-strand F
SAVs
| SAV | Position (IC) | Domain | Position (Domain) | RS | AlphaMissense (IC) |
DUET |
PolyPhen-2 |
Condel |
Rhapsody |
REVEL |
MVP |
Source |
MAF |
Disease |
Zygosity |
Site annotation |
mCSM PPI |
Predicted PPI site |
Comments |
AFR |
AMR |
AMS |
ASJ |
EAS |
EUR |
FIN |
MDE |
NFE |
SAS |
OTH |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/S | 15734 |
Fn3-1 |
78 | rs749729941 |
0.4195 | None | 1.0 | D | 0.612 | 0.533 | 0.493561785454 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 6.57E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/S | 15734 |
Fn3-1 |
78 | rs749729941 |
0.4195 | None | 1.0 | D | 0.612 | 0.533 | 0.493561785454 | gnomAD-4.0.0 | 6.58241E-06 | None | None | None | None | N | None | 0 | 6.56599E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/T | 15734 |
Fn3-1 |
78 | rs749729941 |
0.8438 | -1.906 | 1.0 | D | 0.791 | 0.586 | 0.578941962908 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| A/T | 15734 |
Fn3-1 |
78 | rs749729941 |
0.8438 | -1.906 | 1.0 | D | 0.791 | 0.586 | 0.578941962908 | gnomAD-4.0.0 | 3.18638E-06 | None | None | None | None | N | None | 0 | 2.28822E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43328E-05 | 0 |
| A/V | 15734 |
Fn3-1 |
78 | rs2057710011 |
0.843 | None | 1.0 | D | 0.705 | 0.65 | 0.64476554747 | gnomAD-3.1.2 | 6.59E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/V | 15734 |
Fn3-1 |
78 | rs2057710011 |
0.843 | None | 1.0 | D | 0.705 | 0.65 | 0.64476554747 | gnomAD-4.0.0 | 1.24023E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.6961E-06 | 0 | 0 |
| A/E | 15936 |
Fn3-3 |
78 | None | 0.9954 | None | 1.0 | D | 0.83 | 0.746 | 0.754178574707 | gnomAD-4.0.0 | 6.95404E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.09516E-07 | 0 | 0 |
| A/T | 15936 |
Fn3-3 |
78 | rs1401370061 |
0.824 | -2.039 | 1.0 | D | 0.769 | 0.685 | 0.492611691308 | gnomAD-4.0.0 | 1.65629E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.88035E-05 | None | 0 | 0 | 0 | 0 | 0 |
| A/G | 16131 |
Fn3-4 |
77 | None | 0.3614 | None | 1.0 | D | 0.609 | 0.705 | 0.536381233585 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 6.07533E-05 | 0 |
| A/P | 16131 |
Fn3-4 |
77 | None | 0.7417 | None | 1.0 | D | 0.875 | 0.78 | 0.607483585054 | gnomAD-4.0.0 | 6.84742E-07 | None | None | None | None | N | None | 2.99581E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/S | 16131 |
Fn3-4 |
77 | rs571868215 |
0.3453 | -2.2 | 1.0 | D | 0.602 | 0.608 | 0.424313518543 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| A/S | 16131 |
Fn3-4 |
77 | rs571868215 |
0.3453 | -2.2 | 1.0 | D | 0.602 | 0.608 | 0.424313518543 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07211E-04 | 0 |
| A/S | 16131 |
Fn3-4 |
77 | rs571868215 |
0.3453 | -2.2 | 1.0 | D | 0.602 | 0.608 | 0.424313518543 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 1E-03 | None |
| A/S | 16131 |
Fn3-4 |
77 | rs571868215 |
0.3453 | -2.2 | 1.0 | D | 0.602 | 0.608 | 0.424313518543 | gnomAD-4.0.0 | 6.82197E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.20866E-04 | 0 |
| A/D | 16231 |
Fn3-5 |
77 | None | 0.9979 | None | 1.0 | D | 0.865 | 0.795 | 0.841028351266 | gnomAD-4.0.0 | 6.94953E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.09493E-07 | 0 | 0 |
| A/T | 16231 |
Fn3-5 |
77 | rs1423024320 |
0.908 | -2.009 | 1.0 | D | 0.78 | 0.716 | 0.676191613372 | gnomAD-4.0.0 | 1.38955E-06 | None | None | None | None | N | None | 0 | 2.40917E-05 | None | 0 | 0 | None | 0 | 0 | 9.09322E-07 | 0 | 0 |
| A/V | 16231 |
Fn3-5 |
77 | None | 0.9078 | None | 1.0 | D | 0.695 | 0.766 | 0.72613263291 | gnomAD-4.0.0 | 6.94953E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.20566E-05 | 0 |
| A/G | 16427 |
Fn3-6 |
77 | rs794727351 |
0.5567 | None | 1.0 | D | 0.6 | 0.615 | 0.633060558607 | gnomAD-4.0.0 | 1.91721E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.51954E-05 | 0 | 0 |
| A/V | 16427 |
Fn3-6 |
77 | None | 0.9675 | None | 1.0 | D | 0.699 | 0.615 | 0.689545136808 | gnomAD-4.0.0 | 3.42359E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.49917E-06 | 0 | 0 |
| A/G | 16627 |
Fn3-8 |
77 | rs1037960850 |
0.5992 | None | 1.0 | D | 0.601 | 0.7 | 0.612202403371 | gnomAD-4.0.0 | 2.0541E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69955E-06 | 0 | 0 |
| A/T | 16727 |
Fn3-9 |
77 | rs766576103 |
0.8647 | -1.966 | 1.0 | D | 0.797 | 0.795 | 0.625265535518 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 9.81E-05 | None | 0 | 0 | 0 |
| A/T | 16727 |
Fn3-9 |
77 | rs766576103 |
0.8647 | -1.966 | 1.0 | D | 0.797 | 0.795 | 0.625265535518 | gnomAD-4.0.0 | 4.10832E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 6.95878E-05 | 0 |
| A/V | 16727 |
Fn3-9 |
77 | None | 0.8499 | None | 1.0 | D | 0.711 | 0.78 | 0.787238543218 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| A/E | 16930 |
Fn3-11 |
79 | None | 0.9974 | None | 1.0 | D | 0.834 | 0.747 | 0.876413698079 | gnomAD-4.0.0 | 6.84564E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.65793E-05 |
| A/V | 16930 |
Fn3-11 |
79 | None | 0.9357 | None | 1.0 | D | 0.692 | 0.692 | 0.826432877191 | gnomAD-4.0.0 | 1.36913E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79956E-06 | 0 | 0 |
| A/V | 17123 |
Fn3-12 |
77 | None | 0.9173 | None | 1.0 | D | 0.717 | 0.705 | 0.658592010494 | gnomAD-4.0.0 | 1.59286E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86138E-06 | 0 | 0 |
| A/G | 17224 |
Fn3-13 |
78 | rs2055864896 |
0.7176 | None | 1.0 | D | 0.621 | 0.697 | 0.657092304468 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/G | 17224 |
Fn3-13 |
78 | rs2055864896 |
0.7176 | None | 1.0 | D | 0.621 | 0.697 | 0.657092304468 | gnomAD-4.0.0 | 2.56604E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.39708E-06 | 0 | 2.84884E-05 |
| A/D | 17447 |
Fn3-14 |
79 | None | 0.9984 | None | 0.142 | D | 0.619 | 0.713 | 0.529661991002 | gnomAD-4.0.0 | 5.47962E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.20051E-06 | 0 | 0 |
| A/G | 17447 |
Fn3-14 |
79 | rs758092362 |
0.3858 | -2.451 | 0.958 | D | 0.625 | 0.591 | None | gnomAD-2.1.1 | 1.22E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.69E-05 | 0 |
| A/G | 17447 |
Fn3-14 |
79 | rs758092362 |
0.3858 | -2.451 | 0.958 | D | 0.625 | 0.591 | None | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/G | 17447 |
Fn3-14 |
79 | rs758092362 |
0.3858 | -2.451 | 0.958 | D | 0.625 | 0.591 | None | gnomAD-4.0.0 | 6.20359E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.56416E-05 | 0 | 5.93736E-06 | 0 | 3.20688E-05 |
| A/T | 17447 |
Fn3-14 |
79 | rs1367567526 |
0.9328 | -1.906 | 0.958 | D | 0.732 | 0.632 | 0.516050471323 | gnomAD-2.1.1 | 4.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.98E-06 | 0 |
| A/T | 17447 |
Fn3-14 |
79 | rs1367567526 |
0.9328 | -1.906 | 0.958 | D | 0.732 | 0.632 | 0.516050471323 | gnomAD-4.0.0 | 7.20193E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.87501E-06 | 0 | 0 |
| A/V | 17646 |
Fn3-16 |
78 | rs551439510 |
0.9049 | -0.68 | 1.0 | D | 0.699 | 0.605 | 0.723718158193 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 6.47E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/V | 17646 |
Fn3-16 |
78 | rs551439510 |
0.9049 | -0.68 | 1.0 | D | 0.699 | 0.605 | 0.723718158193 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/V | 17646 |
Fn3-16 |
78 | rs551439510 |
0.9049 | -0.68 | 1.0 | D | 0.699 | 0.605 | 0.723718158193 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| A/V | 17646 |
Fn3-16 |
78 | rs551439510 |
0.9049 | -0.68 | 1.0 | D | 0.699 | 0.605 | 0.723718158193 | gnomAD-4.0.0 | 6.57393E-06 | None | None | None | None | N | None | 2.40628E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/V | 17839 |
Fn3-17 |
76 | None | 0.9531 | None | 0.977 | D | 0.671 | 0.66 | 0.590373781641 | gnomAD-4.0.0 | 1.59479E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.02939E-05 |
| A/P | 17939 |
Fn3-18 |
78 | None | 0.9901 | None | 0.991 | D | 0.805 | 0.728 | 0.660981396111 | gnomAD-4.0.0 | 1.59524E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86571E-06 | 0 | 0 |
| A/V | 17939 |
Fn3-18 |
78 | None | 0.7747 | None | 0.885 | D | 0.63 | 0.676 | 0.699363104141 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 6.33473E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/G | 18351 |
Fn3-21 |
80 | rs948552885 |
0.4422 | -2.579 | 1.0 | D | 0.611 | 0.684 | 0.585534595853 | gnomAD-2.1.1 | 1.43E-05 | None | None | None | None | N | None | 0 | 1.13404E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/G | 18351 |
Fn3-21 |
80 | rs948552885 |
0.4422 | -2.579 | 1.0 | D | 0.611 | 0.684 | 0.585534595853 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/G | 18351 |
Fn3-21 |
80 | rs948552885 |
0.4422 | -2.579 | 1.0 | D | 0.611 | 0.684 | 0.585534595853 | gnomAD-4.0.0 | 6.41264E-06 | None | None | None | None | N | None | 0 | 6.78864E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 2.84803E-05 |
| A/V | 18351 |
Fn3-21 |
80 | None | 0.79 | None | 1.0 | D | 0.674 | 0.663 | 0.614323175037 | gnomAD-4.0.0 | 1.59321E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.88331E-05 | 0 | 0 | 0 | 0 |
| A/V | 18555 |
Fn3-22 |
77 | rs759902646 |
0.9342 | -0.993 | 1.0 | D | 0.72 | 0.695 | None | gnomAD-2.1.1 | 4.06E-06 | None | None | None | None | N | None | 6.48E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/V | 18555 |
Fn3-22 |
77 | rs759902646 |
0.9342 | -0.993 | 1.0 | D | 0.72 | 0.695 | None | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/V | 18661 |
Fn3-23 |
83 | rs370732855 |
0.8722 | -1.164 | 1.0 | D | 0.691 | 0.771 | 0.810460914683 | gnomAD-2.1.1 | 7.15E-06 | None | None | None | None | N | None | 4.07E-05 | 2.83E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/V | 18661 |
Fn3-23 |
83 | rs370732855 |
0.8722 | -1.164 | 1.0 | D | 0.691 | 0.771 | 0.810460914683 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/V | 18661 |
Fn3-23 |
83 | rs370732855 |
0.8722 | -1.164 | 1.0 | D | 0.691 | 0.771 | 0.810460914683 | gnomAD-4.0.0 | 2.56494E-06 | None | None | None | None | N | None | 0 | 3.39236E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/S | 18861 |
Fn3-24 |
78 | None | 0.474 | None | 1.0 | N | 0.639 | 0.605 | 0.469989170139 | gnomAD-4.0.0 | 7.29651E-07 | None | None | None | None | N | None | 3.29859E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/T | 18861 |
Fn3-24 |
78 | rs368419410 |
0.9426 | -1.85 | 1.0 | D | 0.797 | 0.656 | None | gnomAD-2.1.1 | 4.73E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.68E-05 | 0 |
| A/T | 18861 |
Fn3-24 |
78 | rs368419410 |
0.9426 | -1.85 | 1.0 | D | 0.797 | 0.656 | None | gnomAD-3.1.2 | 3.95E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 7.35E-05 | 0 | 0 |
| A/T | 18861 |
Fn3-24 |
78 | rs368419410 |
0.9426 | -1.85 | 1.0 | D | 0.797 | 0.656 | None | gnomAD-4.0.0 | 5.71407E-05 | None | None | None | None | N | None | 1.39416E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 7.45733E-05 | 0 | 1.70678E-05 |
| A/T | 19361 |
Fn3-28 |
78 | None | 0.904 | None | 1.0 | D | 0.795 | 0.602 | 0.66976639498 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| A/T | 19656 |
Fn3-30 |
78 | None | 0.8385 | None | 1.0 | D | 0.778 | 0.608 | 0.523546030903 | gnomAD-4.0.0 | 6.84362E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99586E-07 | 0 | 0 |
| A/V | 19953 |
Fn3-32 |
77 | rs754149259 |
0.9013 | -0.818 | 0.999 | D | 0.651 | 0.63 | 0.681116102103 | gnomAD-2.1.1 | 2.02E-05 | None | None | None | None | N | None | 0 | 2.91E-05 | None | 0 | 0 | None | 0 | None | 0 | 3.56E-05 | 0 |
| A/V | 19953 |
Fn3-32 |
77 | rs754149259 |
0.9013 | -0.818 | 0.999 | D | 0.651 | 0.63 | 0.681116102103 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/V | 19953 |
Fn3-32 |
77 | rs754149259 |
0.9013 | -0.818 | 0.999 | D | 0.651 | 0.63 | 0.681116102103 | gnomAD-4.0.0 | 3.34796E-05 | None | None | None | None | N | None | 0 | 3.33901E-05 | None | 0 | 0 | None | 0 | 0 | 4.32384E-05 | 1.09844E-05 | 0 |
| A/D | 20347 |
Fn3-35 |
77 | rs1372719064 |
0.9977 | None | 1.0 | D | 0.866 | 0.743 | 0.875684388022 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/D | 20347 |
Fn3-35 |
77 | rs1372719064 |
0.9977 | None | 1.0 | D | 0.866 | 0.743 | 0.875684388022 | gnomAD-4.0.0 | 6.81949E-06 | None | None | None | None | N | None | 4.00759E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 6.78289E-06 | 0 | 0 |
| A/P | 20449 |
Fn3-36 |
79 | None | 0.9894 | None | 1.0 | D | 0.851 | 0.645 | 0.685599082871 | gnomAD-4.0.0 | 1.64748E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.93907E-06 | 0 | 0 |
| T/A | 20745 |
Fn3-38 |
78 | rs374085176 |
0.2519 | -2.337 | 0.37 | N | 0.34 | 0.116 | None | gnomAD-2.1.1 | 1.07E-05 | None | None | None | None | N | None | 1.24008E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| T/A | 20745 |
Fn3-38 |
78 | rs374085176 |
0.2519 | -2.337 | 0.37 | N | 0.34 | 0.116 | None | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 7.24E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/A | 20745 |
Fn3-38 |
78 | rs374085176 |
0.2519 | -2.337 | 0.37 | N | 0.34 | 0.116 | None | gnomAD-4.0.0 | 4.95877E-06 | None | None | None | None | N | None | 9.34554E-05 | 1.66845E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/T | 20940 |
Fn3-39 |
77 | None | 0.9244 | None | 0.999 | D | 0.723 | 0.534 | 0.517765160837 | gnomAD-4.0.0 | 1.59298E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86022E-06 | 0 | 0 |
| A/S | 21147 |
Fn3-41 |
84 | None | 0.3044 | None | 1.0 | D | 0.609 | 0.656 | 0.48300943003 | gnomAD-4.0.0 | 1.37062E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.80059E-06 | 0 | 0 |
| A/T | 21147 |
Fn3-41 |
84 | rs72646853 |
0.8376 | -1.8 | 1.0 | D | 0.777 | 0.662 | None | gnomAD-2.1.1 | 5.39335E-04 | None | None | None | None | N | None | 0 | 1.14528E-04 | None | 2.9406E-04 | 0 | None | 3.29989E-03 | None | 4.03E-05 | 2.61656E-04 | 1.14123E-03 |
| A/T | 21147 |
Fn3-41 |
84 | rs72646853 |
0.8376 | -1.8 | 1.0 | D | 0.777 | 0.662 | None | gnomAD-3.1.2 | 3.15698E-04 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 2.88184E-04 | 0 | None | 0 | 0 | 3.53107E-04 | 4.54921E-03 | 0 |
| A/T | 21147 |
Fn3-41 |
84 | rs72646853 |
0.8376 | -1.8 | 1.0 | D | 0.777 | 0.662 | None | 1000 genomes | 7.98722E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 4.1E-03 | None |
| A/T | 21147 |
Fn3-41 |
84 | rs72646853 |
0.8376 | -1.8 | 1.0 | D | 0.777 | 0.662 | None |
Taylor (2011)
| None |
ARVC
|
comp het with M35859T | None | None | N | Genetic analysis of TTN in 38 ARVC families, incomplete penetrance | None | None | None | None | None | None | None | None | None | None | None |
| A/T | 21147 |
Fn3-41 |
84 | rs72646853 |
0.8376 | -1.8 | 1.0 | D | 0.777 | 0.662 | None | gnomAD-4.0.0 | 4.20144E-04 | None | None | None | None | N | None | 2.6688E-05 | 6.69546E-05 | None | 3.05147E-04 | 2.24669E-05 | None | 3.13224E-05 | 1.48957E-03 | 2.12097E-04 | 4.00934E-03 | 5.77238E-04 |
| A/G | 21342 |
Fn3-42 |
77 | rs1218513536 |
0.2558 | -2.298 | 1.0 | N | 0.625 | 0.636 | 0.64471023102 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| A/G | 21342 |
Fn3-42 |
77 | rs1218513536 |
0.2558 | -2.298 | 1.0 | N | 0.625 | 0.636 | 0.64471023102 | gnomAD-4.0.0 | 1.4372E-05 | None | None | None | None | N | None | 0 | 6.70991E-05 | None | 0 | 0 | None | 0 | 0 | 1.61944E-05 | 0 | 0 |
| A/V | 21342 |
Fn3-42 |
77 | None | 0.9365 | None | 1.0 | D | 0.714 | 0.659 | 0.68083381961 | gnomAD-4.0.0 | 6.84383E-07 | None | None | None | None | N | None | 0 | 2.23664E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/G | 21636 |
Fn3-44 |
78 | None | 0.5782 | None | 1.0 | D | 0.654 | 0.569 | 0.559310644637 | gnomAD-4.0.0 | 1.59192E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85972E-06 | 0 | 0 |
| A/T | 21636 |
Fn3-44 |
78 | rs765859586 |
0.8982 | -2.007 | 1.0 | D | 0.83 | 0.583 | 0.538792235971 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| A/T | 21636 |
Fn3-44 |
78 | rs765859586 |
0.8982 | -2.007 | 1.0 | D | 0.83 | 0.583 | 0.538792235971 | gnomAD-4.0.0 | 1.59193E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.02608E-05 |
| A/S | 21736 |
Fn3-45 |
78 | rs1320436212 |
0.3514 | -1.891 | 1.0 | D | 0.597 | 0.63 | 0.599966047421 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/S | 21736 |
Fn3-45 |
78 | rs1320436212 |
0.3514 | -1.891 | 1.0 | D | 0.597 | 0.63 | 0.599966047421 | gnomAD-4.0.0 | 1.59544E-06 | None | None | None | None | N | None | 0 | 2.28875E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/V | 21836 |
Fn3-46 |
80 | None | 0.7065 | None | 0.955 | D | 0.667 | 0.59 | 0.712790429676 | gnomAD-4.0.0 | 6.84941E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00012E-07 | 0 | 0 |
| A/P | 22132 |
Fn3-48 |
78 | rs2047876545 |
0.9779 | None | 1.0 | D | 0.892 | 0.759 | 0.712308658724 | gnomAD-4.0.0 | 1.59237E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86026E-06 | 0 | 0 |
| A/D | 22525 |
Fn3-51 |
75 | None | 0.9964 | None | 0.993 | D | 0.864 | 0.76 | 0.872708619939 | gnomAD-4.0.0 | 1.36873E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79931E-06 | 0 | 0 |
| A/V | 22525 |
Fn3-51 |
75 | rs781320550 |
0.7221 | -0.735 | 0.977 | D | 0.72 | 0.705 | 0.760880696488 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| A/V | 22525 |
Fn3-51 |
75 | rs781320550 |
0.7221 | -0.735 | 0.977 | D | 0.72 | 0.705 | 0.760880696488 | gnomAD-4.0.0 | 2.73746E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59862E-06 | 0 | 0 |
| A/P | 22820 |
Fn3-53 |
78 | rs72646880 |
0.9701 | -0.908 | 1.0 | D | 0.882 | 0.761 | None | gnomAD-2.1.1 | 1.83585E-03 | None | None | None | None | N | None | 2.4818E-04 | 7.07574E-04 | None | 5.32636E-03 | 0 | None | 2.77887E-03 | None | 2.79955E-04 | 2.45432E-03 | 3.09685E-03 |
| A/P | 22820 |
Fn3-53 |
78 | rs72646880 |
0.9701 | -0.908 | 1.0 | D | 0.882 | 0.761 | None | gnomAD-3.1.2 | 1.58488E-03 | None | None | None | None | N | None | 3.62056E-04 | 8.52795E-04 | 0 | 5.47866E-03 | 0 | None | 3.76861E-04 | 6.32911E-03 | 2.51537E-03 | 2.48447E-03 | 2.39006E-03 |
| A/P | 22820 |
Fn3-53 |
78 | rs72646880 |
0.9701 | -0.908 | 1.0 | D | 0.882 | 0.761 | None | 1000 genomes | 7.98722E-04 | None | None | None | None | N | None | 0 | 2.9E-03 | None | None | 0 | 1E-03 | None | None | None | 1E-03 | None |
| A/P | 22820 |
Fn3-53 |
78 | rs72646880 |
0.9701 | -0.908 | 1.0 | D | 0.882 | 0.761 | None | gnomAD-4.0.0 | 1.86089E-03 | None | None | None | None | N | None | 4.66766E-04 | 7.83595E-04 | None | 6.59229E-03 | 0 | None | 3.43836E-04 | 4.29468E-03 | 1.92884E-03 | 2.72396E-03 | 2.46574E-03 |
| A/E | 22918 |
Fn3-54 |
78 | rs1194010406 |
0.9937 | -2.607 | 1.0 | D | 0.834 | 0.622 | 0.850045053 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.93E-06 | 0 |
| A/E | 22918 |
Fn3-54 |
78 | rs1194010406 |
0.9937 | -2.607 | 1.0 | D | 0.834 | 0.622 | 0.850045053 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/E | 22918 |
Fn3-54 |
78 | rs1194010406 |
0.9937 | -2.607 | 1.0 | D | 0.834 | 0.622 | 0.850045053 | gnomAD-4.0.0 | 1.8598E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.54334E-06 | 0 | 0 |
| A/S | 22918 |
Fn3-54 |
78 | rs909868420 |
0.3691 | -2.283 | 1.0 | D | 0.622 | 0.636 | 0.513901218509 | gnomAD-2.1.1 | 2.15E-05 | None | None | None | None | N | None | 0 | 1.69972E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/S | 22918 |
Fn3-54 |
78 | rs909868420 |
0.3691 | -2.283 | 1.0 | D | 0.622 | 0.636 | 0.513901218509 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 1.31027E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/S | 22918 |
Fn3-54 |
78 | rs909868420 |
0.3691 | -2.283 | 1.0 | D | 0.622 | 0.636 | 0.513901218509 | gnomAD-4.0.0 | 8.97385E-06 | None | None | None | None | N | None | 0 | 1.18688E-04 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/V | 22918 |
Fn3-54 |
78 | rs1194010406 |
0.7244 | -0.807 | 1.0 | D | 0.695 | 0.627 | 0.74474950851 | gnomAD-2.1.1 | 8.07E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.79E-05 | 0 |
| A/V | 22918 |
Fn3-54 |
78 | rs1194010406 |
0.7244 | -0.807 | 1.0 | D | 0.695 | 0.627 | 0.74474950851 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/V | 22918 |
Fn3-54 |
78 | rs1194010406 |
0.7244 | -0.807 | 1.0 | D | 0.695 | 0.627 | 0.74474950851 | gnomAD-4.0.0 | 3.71961E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.08669E-06 | 0 | 0 |
| A/D | 23116 |
Fn3-55 |
77 | rs2154173466 |
0.9979 | None | 1.0 | D | 0.85 | 0.729 | 0.87120463873 | gnomAD-4.0.0 | 1.08029E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.18125E-05 | 0 | 0 |
| A/T | 23216 |
Fn3-56 |
78 | rs1271698447 |
0.9006 | -1.975 | 1.0 | D | 0.791 | 0.625 | 0.550589291799 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| A/T | 23216 |
Fn3-56 |
78 | rs1271698447 |
0.9006 | -1.975 | 1.0 | D | 0.791 | 0.625 | 0.550589291799 | gnomAD-4.0.0 | 1.5917E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85914E-06 | 0 | 0 |
| A/V | 23318 |
Fn3-57 |
79 | None | 0.8936 | None | 1.0 | D | 0.677 | 0.654 | 0.729862137799 | gnomAD-4.0.0 | 1.59314E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.02755E-05 |
| A/G | 23511 |
Fn3-58 |
77 | rs1709793052 |
0.3384 | None | 1.0 | N | 0.609 | 0.642 | 0.528561964389 | gnomAD-4.0.0 | 5.4741E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.19641E-06 | 0 | 0 |
| A/T | 23511 |
Fn3-58 |
77 | rs1423033072 |
0.9067 | -1.82 | 1.0 | D | 0.791 | 0.7 | 0.550926910813 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.57E-05 | None | 0 | None | 0 | 0 | 0 |
| A/T | 23511 |
Fn3-58 |
77 | rs1423033072 |
0.9067 | -1.82 | 1.0 | D | 0.791 | 0.7 | 0.550926910813 | gnomAD-4.0.0 | 1.59158E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77377E-05 | None | 0 | 0 | 0 | 0 | 0 |
| A/T | 23607 |
Fn3-59 |
76 | rs786205539 |
0.8911 | -1.884 | 1.0 | D | 0.806 | 0.819 | 0.66516836563 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 9.19118E-04 |
| A/T | 23607 |
Fn3-59 |
76 | rs786205539 |
0.8911 | -1.884 | 1.0 | D | 0.806 | 0.819 | 0.66516836563 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/T | 23607 |
Fn3-59 |
76 | rs786205539 |
0.8911 | -1.884 | 1.0 | D | 0.806 | 0.819 | 0.66516836563 | gnomAD-4.0.0 | 4.06004E-06 | None | None | None | None | N | None | 5.24182E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.20497E-06 | 0 | 0 |
| A/S | 23803 |
Fn3-60 |
78 | rs772111329 |
0.386 | -2.043 | 0.977 | D | 0.588 | 0.557 | 0.441636318388 | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.11807E-04 | None | 0 | None | 0 | 0 | 0 |
| A/S | 23803 |
Fn3-60 |
78 | rs772111329 |
0.386 | -2.043 | 0.977 | D | 0.588 | 0.557 | 0.441636318388 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.94401E-04 | None | 0 | 0 | 0 | 0 | 0 |
| A/S | 23803 |
Fn3-60 |
78 | rs772111329 |
0.386 | -2.043 | 0.977 | D | 0.588 | 0.557 | 0.441636318388 | gnomAD-4.0.0 | 2.56415E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.43013E-05 | None | 0 | 0 | 0 | 1.34163E-05 | 0 |
| A/V | 23803 |
Fn3-60 |
78 | rs1553611543 |
0.9391 | None | 0.989 | D | 0.72 | 0.621 | 0.709716954598 | gnomAD-4.0.0 | 4.79098E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.2976E-06 | 0 | 0 |
| A/E | 23903 |
Fn3-61 |
78 | None | 0.9956 | None | 1.0 | D | 0.837 | 0.787 | 0.820753909017 | gnomAD-4.0.0 | 6.84317E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99577E-07 | 0 | 0 |
| A/G | 23903 |
Fn3-61 |
78 | rs759693046 |
0.4937 | -2.72 | 1.0 | D | 0.643 | 0.771 | 0.713883852837 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 8.9E-06 | 0 |
| A/G | 23903 |
Fn3-61 |
78 | rs759693046 |
0.4937 | -2.72 | 1.0 | D | 0.643 | 0.771 | 0.713883852837 | gnomAD-4.0.0 | 1.36863E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99577E-07 | 1.15977E-05 | 0 |
| A/T | 23903 |
Fn3-61 |
78 | rs767300259 |
0.656 | -2.0 | 1.0 | D | 0.797 | 0.838 | 0.713429338685 | gnomAD-2.1.1 | 2.5E-05 | None | None | None | None | N | None | 2.48036E-04 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| A/T | 23903 |
Fn3-61 |
78 | rs767300259 |
0.656 | -2.0 | 1.0 | D | 0.797 | 0.838 | 0.713429338685 | gnomAD-3.1.2 | 4.6E-05 | None | None | None | None | N | None | 1.68886E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/T | 23903 |
Fn3-61 |
78 | rs767300259 |
0.656 | -2.0 | 1.0 | D | 0.797 | 0.838 | 0.713429338685 | gnomAD-4.0.0 | 6.19834E-06 | None | None | None | None | N | None | 1.20154E-04 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.09844E-05 | 0 |
| A/V | 23903 |
Fn3-61 |
78 | None | 0.8373 | None | 1.0 | D | 0.715 | 0.762 | 0.756616091254 | gnomAD-4.0.0 | 1.36863E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79915E-06 | 0 | 0 |
| A/S | 24001 |
Fn3-62 |
78 | None | 0.3197 | None | 0.999 | D | 0.62 | 0.596 | 0.592542363097 | gnomAD-4.0.0 | 6.84309E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99588E-07 | 0 | 0 |
| A/T | 24001 |
Fn3-62 |
78 | rs180828370 |
0.6086 | -1.828 | 1.0 | D | 0.713 | 0.621 | None | gnomAD-2.1.1 | 1.75285E-04 | None | None | None | None | N | None | 1.03349E-03 | 6.50821E-04 | None | 0 | 0 | None | 0 | None | 0 | 7.84E-06 | 0 |
| A/T | 24001 |
Fn3-62 |
78 | rs180828370 |
0.6086 | -1.828 | 1.0 | D | 0.713 | 0.621 | None | gnomAD-3.1.2 | 2.82783E-04 | None | None | None | None | N | None | 9.89334E-04 | 1.3113E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/T | 24001 |
Fn3-62 |
78 | rs180828370 |
0.6086 | -1.828 | 1.0 | D | 0.713 | 0.621 | None | 1000 genomes | 3.99361E-04 | None | None | None | None | N | None | 8E-04 | 1.4E-03 | None | None | 0 | 0 | None | None | None | 0 | None |
| A/T | 24001 |
Fn3-62 |
78 | rs180828370 |
0.6086 | -1.828 | 1.0 | D | 0.713 | 0.621 | None | gnomAD-4.0.0 | 6.19768E-05 | None | None | None | None | N | None | 9.59718E-04 | 3.83423E-04 | None | 0 | 0 | None | 0 | 0 | 1.69548E-06 | 0 | 4.80261E-05 |
| A/P | 24199 |
Fn3-63 |
78 | rs747720787 |
0.7401 | None | 1.0 | D | 0.873 | 0.637 | 0.718999380018 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 1.31216E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/P | 24199 |
Fn3-63 |
78 | rs747720787 |
0.7401 | None | 1.0 | D | 0.873 | 0.637 | 0.718999380018 | gnomAD-4.0.0 | 4.52284E-06 | None | None | None | None | N | None | 0 | 7.52181E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/T | 24199 |
Fn3-63 |
78 | rs747720787 |
0.9059 | -1.959 | 1.0 | D | 0.783 | 0.632 | None | gnomAD-2.1.1 | 1.2E-05 | None | None | None | None | N | None | 1.40331E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/T | 24199 |
Fn3-63 |
78 | rs747720787 |
0.9059 | -1.959 | 1.0 | D | 0.783 | 0.632 | None | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/V | 24199 |
Fn3-63 |
78 | rs781043729 |
0.9408 | -0.93 | 1.0 | D | 0.696 | 0.58 | 0.711210980452 | gnomAD-2.1.1 | 5.99E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.2E-05 | 0 |
| A/V | 24199 |
Fn3-63 |
78 | rs781043729 |
0.9408 | -0.93 | 1.0 | D | 0.696 | 0.58 | 0.711210980452 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/V | 24199 |
Fn3-63 |
78 | rs781043729 |
0.9408 | -0.93 | 1.0 | D | 0.696 | 0.58 | 0.711210980452 | gnomAD-4.0.0 | 4.67714E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.21808E-06 | 0 | 0 |
| A/T | 24299 |
Fn3-64 |
78 | rs1708888028 |
0.8747 | None | 1.0 | D | 0.783 | 0.647 | 0.681858940203 | gnomAD-4.0.0 | 3.21905E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.91087E-05 | 0 |
| A/V | 24299 |
Fn3-64 |
78 | rs763506215 |
0.8953 | -1.236 | 1.0 | D | 0.694 | 0.59 | 0.821178597247 | gnomAD-2.1.1 | 4.1E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.04E-06 | 0 |
| A/V | 24299 |
Fn3-64 |
78 | rs763506215 |
0.8953 | -1.236 | 1.0 | D | 0.694 | 0.59 | 0.821178597247 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| A/T | 24595 |
Fn3-66 |
77 | rs543275318 |
0.9616 | -2.015 | 1.0 | D | 0.783 | 0.624 | 0.550047086221 | gnomAD-2.1.1 | 2.57988E-04 | None | None | None | None | N | None | 6.46E-05 | 2.9E-05 | None | 0 | 5.61E-05 | None | 1.86408E-03 | None | 0 | 8.91E-06 | 4.99168E-04 |
| A/T | 24595 |
Fn3-66 |
77 | rs543275318 |
0.9616 | -2.015 | 1.0 | D | 0.783 | 0.624 | 0.550047086221 | gnomAD-3.1.2 | 1.38038E-04 | None | None | None | None | N | None | 4.82E-05 | 7.85855E-04 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 1.24172E-03 | 0 |
| A/T | 24595 |
Fn3-66 |
77 | rs543275318 |
0.9616 | -2.015 | 1.0 | D | 0.783 | 0.624 | 0.550047086221 | gnomAD-4.0.0 | 1.24085E-04 | None | None | None | None | N | None | 4.00652E-05 | 2.50192E-04 | None | 0 | 2.23684E-05 | None | 0 | 3.29598E-04 | 6.78933E-06 | 1.84514E-03 | 4.81031E-05 |
| A/P | 24691 |
Fn3-67 |
76 | None | 0.9937 | None | 1.0 | D | 0.866 | 0.746 | 0.671013503938 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| A/V | 24691 |
Fn3-67 |
76 | None | 0.9064 | None | 0.996 | D | 0.645 | 0.544 | 0.754992625711 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| A/T | 24885 |
Fn3-68 |
78 | rs748083856 |
0.8513 | -2.15 | 1.0 | D | 0.785 | 0.656 | 0.57047621783 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.93E-06 | 0 |
| A/T | 24885 |
Fn3-68 |
78 | rs748083856 |
0.8513 | -2.15 | 1.0 | D | 0.785 | 0.656 | 0.57047621783 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/T | 24885 |
Fn3-68 |
78 | rs748083856 |
0.8513 | -2.15 | 1.0 | D | 0.785 | 0.656 | 0.57047621783 | gnomAD-4.0.0 | 5.12731E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.57653E-06 | 0 | 0 |
| A/S | 24985 |
Fn3-69 |
78 | rs878874875 |
0.4215 | None | 1.0 | D | 0.613 | 0.752 | None | gnomAD-4.0.0 | 7.52768E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.89536E-06 | 0 | 0 |
| A/T | 24985 |
Fn3-69 |
78 | rs878874875 |
0.8149 | -1.701 | 1.0 | D | 0.799 | 0.805 | 0.609517086792 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/T | 24985 |
Fn3-69 |
78 | rs878874875 |
0.8149 | -1.701 | 1.0 | D | 0.799 | 0.805 | 0.609517086792 | gnomAD-4.0.0 | 6.84334E-07 | None | None | None | None | N | None | 0 | 2.23674E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/S | 25281 |
Fn3-71 |
78 | rs754787711 |
0.5235 | -2.315 | 0.996 | N | 0.616 | 0.51 | 0.529861178392 | gnomAD-2.1.1 | 5.73E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 8.285E-04 | None | 0 | None | 0 | 0 | 0 |
| A/S | 25281 |
Fn3-71 |
78 | rs754787711 |
0.5235 | -2.315 | 0.996 | N | 0.616 | 0.51 | 0.529861178392 | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 9.67118E-04 | None | 0 | 0 | 0 | 0 | 0 |
| A/S | 25281 |
Fn3-71 |
78 | rs754787711 |
0.5235 | -2.315 | 0.996 | N | 0.616 | 0.51 | 0.529861178392 | gnomAD-4.0.0 | 1.54972E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 4.91972E-04 | None | 0 | 0 | 0 | 2.19587E-05 | 1.60195E-05 |
| A/T | 25281 |
Fn3-71 |
78 | rs754787711 |
0.9208 | -1.95 | 0.996 | D | 0.709 | 0.578 | 0.591791014774 | gnomAD-2.1.1 | 2.51E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 3.10688E-04 | None | 0 | None | 0 | 7.85E-06 | 0 |
| A/T | 25281 |
Fn3-71 |
78 | rs754787711 |
0.9208 | -1.95 | 0.996 | D | 0.709 | 0.578 | 0.591791014774 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 5.80271E-04 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/T | 25281 |
Fn3-71 |
78 | rs754787711 |
0.9208 | -1.95 | 0.996 | D | 0.709 | 0.578 | 0.591791014774 | gnomAD-4.0.0 | 1.05381E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.56537E-04 | None | 0 | 0 | 8.47742E-06 | 0 | 0 |
| A/V | 25281 |
Fn3-71 |
78 | rs1337558884 |
0.9425 | -0.695 | 0.996 | D | 0.674 | 0.596 | 0.669429980243 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 6.47E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/V | 25281 |
Fn3-71 |
78 | rs1337558884 |
0.9425 | -0.695 | 0.996 | D | 0.674 | 0.596 | 0.669429980243 | gnomAD-4.0.0 | 1.59228E-06 | None | None | None | None | N | None | 5.66316E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/T | 25381 |
Fn3-72 |
78 | rs763636099 |
0.7678 | -2.004 | 1.0 | D | 0.786 | 0.603 | 0.656398299794 | gnomAD-2.1.1 | 8.09E-06 | None | None | None | None | N | None | 0 | 2.91E-05 | None | 0 | 0 | None | 0 | None | 0 | 8.96E-06 | 0 |
| A/T | 25381 |
Fn3-72 |
78 | rs763636099 |
0.7678 | -2.004 | 1.0 | D | 0.786 | 0.603 | 0.656398299794 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/T | 25381 |
Fn3-72 |
78 | rs763636099 |
0.7678 | -2.004 | 1.0 | D | 0.786 | 0.603 | 0.656398299794 | gnomAD-4.0.0 | 4.96216E-06 | None | None | None | None | N | None | 6.68217E-05 | 3.33934E-05 | None | 0 | 0 | None | 0 | 0 | 8.48241E-07 | 0 | 0 |
| A/V | 25483 |
Fn3-73 |
79 | None | 0.8781 | None | 1.0 | D | 0.711 | 0.69 | 0.677256655742 | gnomAD-4.0.0 | 3.18723E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.86821E-05 | 0 |
| A/V | 25677 |
Fn3-74 |
77 | None | 0.9358 | None | 1.0 | D | 0.709 | 0.637 | None | gnomAD-4.0.0 | 1.59208E-06 | None | None | None | None | N | None | 5.66444E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/D | 25773 |
Fn3-75 |
76 | None | 0.9995 | None | 1.0 | D | 0.876 | 0.777 | 0.901024018679 | gnomAD-4.0.0 | 1.59257E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85982E-06 | 0 | 0 |
| A/T | 25773 |
Fn3-75 |
76 | rs757299028 |
0.9256 | -1.879 | 1.0 | D | 0.789 | 0.777 | 0.680047386688 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.11857E-04 | None | 0 | None | 0 | 8.92E-06 | 0 |
| A/T | 25773 |
Fn3-75 |
76 | rs757299028 |
0.9256 | -1.879 | 1.0 | D | 0.789 | 0.777 | 0.680047386688 | gnomAD-4.0.0 | 4.77753E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77824E-05 | None | 0 | 0 | 5.71961E-06 | 0 | 0 |
| A/D | 26067 |
Fn3-77 |
78 | None | 0.9993 | None | 1.0 | D | 0.855 | 0.816 | 0.844566175424 | gnomAD-4.0.0 | 1.59173E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85936E-06 | 0 | 0 |
| A/T | 26165 |
Fn3-78 |
78 | rs886039080 |
0.8732 | -1.868 | 0.142 | D | 0.406 | 0.648 | 0.426436156839 | gnomAD-2.1.1 | 7.17E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.57E-05 | 0 |
| A/T | 26165 |
Fn3-78 |
78 | rs886039080 |
0.8732 | -1.868 | 0.142 | D | 0.406 | 0.648 | 0.426436156839 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| A/T | 26165 |
Fn3-78 |
78 | rs886039080 |
0.8732 | -1.868 | 0.142 | D | 0.406 | 0.648 | 0.426436156839 | gnomAD-4.0.0 | 9.92483E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.23284E-05 | None | 0 | 0 | 1.18765E-05 | 0 | 1.60287E-05 |
| A/V | 26165 |
Fn3-78 |
78 | rs2154166413 |
0.9309 | None | 0.919 | D | 0.65 | 0.642 | 0.735708620882 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/V | 26165 |
Fn3-78 |
78 | rs2154166413 |
0.9309 | None | 0.919 | D | 0.65 | 0.642 | 0.735708620882 | gnomAD-4.0.0 | 1.86073E-06 | None | None | None | None | N | None | 4.00053E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/T | 26363 |
Fn3-79 |
78 | None | 0.9303 | None | 1.0 | D | 0.781 | 0.706 | 0.57631073843 | gnomAD-4.0.0 | 1.20033E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31251E-06 | 0 | 0 |
| A/G | 26463 |
Fn3-80 |
78 | None | 0.6334 | None | 1.0 | D | 0.621 | 0.728 | 0.670813272841 | gnomAD-4.0.0 | 3.42197E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.49767E-06 | 0 | 0 |
| A/V | 26565 |
Fn3-81 |
79 | rs765196786 |
0.8565 | -0.926 | 1.0 | D | 0.716 | 0.718 | 0.70944288126 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 2.87687E-04 | 0 | 0 |
| A/V | 26565 |
Fn3-81 |
79 | rs765196786 |
0.8565 | -0.926 | 1.0 | D | 0.716 | 0.718 | 0.70944288126 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.78927E-04 |
| A/G | 26855 |
Fn3-83 |
76 | rs1705474323 |
0.4554 | None | 1.0 | D | 0.619 | 0.82 | 0.673260283104 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/G | 26855 |
Fn3-83 |
76 | rs1705474323 |
0.4554 | None | 1.0 | D | 0.619 | 0.82 | 0.673260283104 | gnomAD-4.0.0 | 6.57644E-06 | None | None | None | None | N | None | 2.41511E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/P | 26855 |
Fn3-83 |
76 | rs939692096 |
0.9795 | None | 1.0 | D | 0.877 | 0.858 | 0.727179310058 | gnomAD-4.0.0 | 2.05284E-06 | None | None | None | None | N | None | 5.978E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15942E-05 | 0 |
| A/S | 26855 |
Fn3-83 |
76 | None | 0.3193 | None | 1.0 | D | 0.612 | 0.752 | 0.59876965859 | gnomAD-4.0.0 | 1.36856E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79913E-06 | 0 | 0 |
| A/T | 26855 |
Fn3-83 |
76 | None | 0.6938 | None | 1.0 | D | 0.794 | 0.836 | 0.6694009371 | gnomAD-4.0.0 | 6.84279E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99567E-07 | 0 | 0 |
| A/P | 27049 |
Fn3-84 |
78 | rs750982234 |
0.9848 | -1.658 | 1.0 | D | 0.867 | 0.769 | 0.673800983336 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.94E-06 | 0 |
| A/E | 27247 |
Fn3-86 |
78 | None | 0.9978 | None | 1.0 | D | 0.827 | 0.547 | 0.823787080964 | gnomAD-4.0.0 | 6.84298E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99481E-07 | 0 | 0 |
| A/V | 27247 |
Fn3-86 |
78 | rs374380013 |
0.8994 | -1.087 | 1.0 | D | 0.69 | 0.571 | None | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| A/V | 27247 |
Fn3-86 |
78 | rs374380013 |
0.8994 | -1.087 | 1.0 | D | 0.69 | 0.571 | None | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/V | 27247 |
Fn3-86 |
78 | rs374380013 |
0.8994 | -1.087 | 1.0 | D | 0.69 | 0.571 | None | gnomAD-4.0.0 | 1.23959E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.69526E-06 | 0 | 0 |
| A/T | 27446 |
Fn3-87 |
78 | rs1200170296 |
0.8801 | -2.015 | 1.0 | D | 0.795 | 0.69 | 0.720357061662 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| A/T | 27446 |
Fn3-87 |
78 | rs1200170296 |
0.8801 | -2.015 | 1.0 | D | 0.795 | 0.69 | 0.720357061662 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/T | 27446 |
Fn3-87 |
78 | rs1200170296 |
0.8801 | -2.015 | 1.0 | D | 0.795 | 0.69 | 0.720357061662 | gnomAD-4.0.0 | 3.844E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.17975E-06 | 0 | 0 |
| A/V | 27446 |
Fn3-87 |
78 | rs780558473 |
0.9261 | -0.658 | 1.0 | D | 0.711 | 0.62 | 0.751612220608 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.58E-05 | None | 0 | None | 0 | 8.9E-06 | 0 |
| A/V | 27446 |
Fn3-87 |
78 | rs780558473 |
0.9261 | -0.658 | 1.0 | D | 0.711 | 0.62 | 0.751612220608 | gnomAD-4.0.0 | 6.15804E-06 | None | None | None | None | N | None | 2.98793E-05 | 0 | None | 0 | 2.52118E-05 | None | 0 | 5.20833E-04 | 2.69845E-06 | 0 | 1.65667E-05 |
| A/G | 27546 |
Fn3-88 |
78 | None | 0.5293 | None | 1.0 | D | 0.627 | 0.648 | 0.622847267328 | gnomAD-4.0.0 | 1.59131E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.775E-05 | None | 0 | 0 | 0 | 0 | 0 |
| A/T | 27546 |
Fn3-88 |
78 | rs748482268 |
0.781 | -1.943 | 1.0 | D | 0.789 | 0.649 | 0.589192105058 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| A/T | 27546 |
Fn3-88 |
78 | rs748482268 |
0.781 | -1.943 | 1.0 | D | 0.789 | 0.649 | 0.589192105058 | gnomAD-4.0.0 | 3.18254E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85832E-06 | 0 | 3.02444E-05 |
| A/P | 27648 |
Fn3-89 |
79 | None | 0.9691 | None | 1.0 | D | 0.831 | 0.864 | 0.658139403113 | gnomAD-4.0.0 | 1.59137E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43271E-05 | 0 |
| A/E | 27938 |
Fn3-91 |
76 | rs1369391499 |
0.9969 | None | 1.0 | D | 0.82 | 0.594 | 0.880543544734 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/E | 27938 |
Fn3-91 |
76 | rs1369391499 |
0.9969 | None | 1.0 | D | 0.82 | 0.594 | 0.880543544734 | gnomAD-4.0.0 | 6.57246E-06 | None | None | None | None | N | None | 0 | 6.54965E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/G | 27938 |
Fn3-91 |
76 | rs1369391499 |
0.617 | -2.576 | 0.924 | D | 0.613 | 0.543 | 0.646097377304 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 1.001E-04 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/G | 27938 |
Fn3-91 |
76 | rs1369391499 |
0.617 | -2.576 | 0.924 | D | 0.613 | 0.543 | 0.646097377304 | gnomAD-4.0.0 | 1.59316E-06 | None | None | None | None | N | None | 0 | 0 | None | 4.77555E-05 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/T | 27938 |
Fn3-91 |
76 | rs1405100475 |
0.6586 | -2.037 | 0.948 | D | 0.407 | 0.745 | 0.503374072614 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 2.91E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/T | 27938 |
Fn3-91 |
76 | rs1405100475 |
0.6586 | -2.037 | 0.948 | D | 0.407 | 0.745 | 0.503374072614 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/T | 27938 |
Fn3-91 |
76 | rs1405100475 |
0.6586 | -2.037 | 0.948 | D | 0.407 | 0.745 | 0.503374072614 | gnomAD-4.0.0 | 3.84754E-06 | None | None | None | None | N | None | 0 | 3.39282E-05 | None | 0 | 0 | None | 0 | 0 | 2.39467E-06 | 0 | 0 |
| A/T | 28131 |
Fn3-92 |
77 | None | 0.735 | None | 0.992 | D | 0.667 | 0.511 | 0.529311486226 | gnomAD-4.0.0 | 6.84604E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99836E-07 | 0 | 0 |
| A/E | 28329 |
Fn3-94 |
78 | rs1208499717 |
0.9969 | None | 0.999 | D | 0.843 | 0.699 | 0.823067485406 | gnomAD-4.0.0 | 3.18282E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.54908E-05 | None | 0 | 0 | 0 | 0 | 0 |
| A/S | 28329 |
Fn3-94 |
78 | None | 0.3099 | None | 0.992 | D | 0.605 | 0.54 | 0.472982741448 | gnomAD-4.0.0 | 1.59137E-06 | None | None | None | None | N | None | 5.65483E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/T | 28329 |
Fn3-94 |
78 | rs1330177891 |
0.7313 | -1.462 | 0.884 | D | 0.393 | 0.522 | 0.474954162714 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.49E-05 | 0 |
| A/T | 28329 |
Fn3-94 |
78 | rs1330177891 |
0.7313 | -1.462 | 0.884 | D | 0.393 | 0.522 | 0.474954162714 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/T | 28329 |
Fn3-94 |
78 | rs1330177891 |
0.7313 | -1.462 | 0.884 | D | 0.393 | 0.522 | 0.474954162714 | gnomAD-4.0.0 | 6.57479E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47037E-05 | 0 | 0 |
| G/A | 28527 |
Fn3-95 |
78 | None | 0.0553 | None | 0.016 | N | 0.443 | 0.097 | 0.0401082797425 | gnomAD-4.0.0 | 6.84438E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99559E-07 | 0 | 0 |
| G/D | 28527 |
Fn3-95 |
78 | rs886038882 |
0.9557 | None | 0.946 | N | 0.835 | 0.293 | 0.236890367714 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/D | 28527 |
Fn3-95 |
78 | rs886038882 |
0.9557 | None | 0.946 | N | 0.835 | 0.293 | 0.236890367714 | gnomAD-4.0.0 | 3.09951E-06 | None | None | None | None | N | None | 1.33526E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 3.39072E-06 | 0 | 0 |
| G/S | 28527 |
Fn3-95 |
78 | rs1703237348 |
0.1759 | None | 0.716 | N | 0.733 | 0.275 | 0.269111216191 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/S | 28527 |
Fn3-95 |
78 | rs1703237348 |
0.1759 | None | 0.716 | N | 0.733 | 0.275 | 0.269111216191 | gnomAD-4.0.0 | 6.57341E-06 | None | None | None | None | N | None | 0 | 6.55222E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/F | 28727 |
Fn3-97 |
77 | rs768069914 |
0.9791 | -1.971 | 0.97 | N | 0.851 | 0.468 | 0.641611064703 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 6.54E-05 | None | 0 | 0 | 0 |
| S/F | 28727 |
Fn3-97 |
77 | rs768069914 |
0.9791 | -1.971 | 0.97 | N | 0.851 | 0.468 | 0.641611064703 | gnomAD-4.0.0 | 1.59127E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43279E-05 | 0 |
| G/A | 28921 |
Fn3-98 |
77 | None | 0.0887 | None | 0.45 | N | 0.542 | 0.174 | 0.110078149338 | gnomAD-4.0.0 | 1.20034E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31252E-06 | 0 | 0 |
| A/T | 29017 |
Fn3-99 |
76 | rs727505050 |
0.7367 | None | 1.0 | D | 0.804 | 0.723 | 0.641425284928 | gnomAD-4.0.0 | 2.05277E-06 | None | None | None | None | N | None | 0 | 2.23604E-05 | None | 0 | 0 | None | 0 | 0 | 1.79891E-06 | 0 | 0 |
| A/V | 29017 |
Fn3-99 |
76 | rs1454476732 |
0.8767 | -0.907 | 1.0 | D | 0.703 | 0.664 | 0.795736422416 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| A/V | 29017 |
Fn3-99 |
76 | rs1454476732 |
0.8767 | -0.907 | 1.0 | D | 0.703 | 0.664 | 0.795736422416 | gnomAD-4.0.0 | 1.59147E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43299E-05 | 0 |
| A/E | 29214 |
Fn3-100 |
78 | None | 0.9959 | None | 1.0 | D | 0.827 | 0.649 | 0.709706758388 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| A/E | 29314 |
Fn3-101 |
78 | None | 0.9962 | None | 1.0 | D | 0.819 | 0.704 | 0.822100390886 | gnomAD-4.0.0 | 1.59107E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85773E-06 | 0 | 0 |
| A/T | 29314 |
Fn3-101 |
78 | rs923029692 |
0.8137 | -1.911 | 1.0 | D | 0.776 | 0.743 | 0.730109315621 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| A/T | 29314 |
Fn3-101 |
78 | rs923029692 |
0.8137 | -1.911 | 1.0 | D | 0.776 | 0.743 | 0.730109315621 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| A/T | 29314 |
Fn3-101 |
78 | rs923029692 |
0.8137 | -1.911 | 1.0 | D | 0.776 | 0.743 | 0.730109315621 | gnomAD-4.0.0 | 7.6851E-06 | None | None | None | None | N | None | 3.38135E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 9.56988E-06 | 0 | 0 |
| A/V | 29412 |
Fn3-102 |
78 | None | 0.8693 | None | 1.0 | D | 0.713 | 0.584 | 0.764595348629 | gnomAD-4.0.0 | 6.84221E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99447E-07 | 0 | 0 |
| A/D | 29610 |
Fn3-103 |
78 | rs1060500410 |
0.9918 | None | 0.782 | D | 0.817 | 0.533 | 0.672435393608 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/D | 29610 |
Fn3-103 |
78 | rs1060500410 |
0.9918 | None | 0.782 | D | 0.817 | 0.533 | 0.672435393608 | gnomAD-4.0.0 | 5.12605E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.57272E-06 | 0 | 0 |
| A/T | 29610 |
Fn3-103 |
78 | rs1289495878 |
0.8157 | -1.791 | 0.505 | D | 0.73 | 0.47 | 0.489104616352 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| A/T | 29610 |
Fn3-103 |
78 | rs1289495878 |
0.8157 | -1.791 | 0.505 | D | 0.73 | 0.47 | 0.489104616352 | gnomAD-4.0.0 | 3.18407E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.86681E-05 | 0 |
| A/T | 29710 |
Fn3-104 |
78 | None | 0.8878 | None | 1.0 | D | 0.797 | 0.786 | 0.752174296754 | gnomAD-4.0.0 | 6.84738E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15996E-05 | 0 |
| A/P | 29812 |
Fn3-105 |
79 | None | 0.9723 | None | 0.997 | D | 0.802 | 0.704 | 0.642082960585 | gnomAD-4.0.0 | 1.59118E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85814E-06 | 0 | 0 |
| A/V | 29812 |
Fn3-105 |
79 | None | 0.8945 | None | 0.977 | D | 0.715 | 0.575 | 0.742137632746 | gnomAD-4.0.0 | 3.60097E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.93751E-06 | 0 | 0 |
| A/T | 30009 |
Fn3-106 |
77 | None | 0.9087 | None | 1.0 | D | 0.8 | 0.764 | 0.647012125924 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| A/T | 30105 |
Fn3-107 |
76 | rs1699867864 |
0.6437 | None | 0.993 | D | 0.735 | 0.582 | 0.50685403127 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/T | 30105 |
Fn3-107 |
76 | rs1699867864 |
0.6437 | None | 0.993 | D | 0.735 | 0.582 | 0.50685403127 | gnomAD-4.0.0 | 1.85905E-06 | None | None | None | None | N | None | 2.66923E-05 | 0 | None | 3.37838E-05 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/T | 30401 |
Fn3-109 |
78 | rs775741044 |
0.6498 | -1.942 | 1.0 | D | 0.805 | 0.721 | 0.569243600337 | gnomAD-3.1.2 | 4.6E-05 | None | None | None | None | N | None | 0 | 0 | 6.57895E-03 | 0 | 0 | None | 0 | 0 | 0 | 2.06868E-04 | 0 |
| A/T | 30401 |
Fn3-109 |
78 | rs775741044 |
0.6498 | -1.942 | 1.0 | D | 0.805 | 0.721 | 0.569243600337 | gnomAD-4.0.0 | 5.57935E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.19761E-05 | 1.60179E-05 |
| A/V | 30401 |
Fn3-109 |
78 | None | 0.7377 | None | 1.0 | D | 0.721 | 0.671 | 0.732724583431 | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.625E-06 | 0 | 0 |
| A/P | 30498 |
Fn3-110 |
77 | rs368724043 |
0.993 | None | 1.0 | D | 0.85 | 0.789 | 0.762734841261 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.93199E-04 | None | 0 | 0 | 0 | 0 | 0 |
| A/P | 30498 |
Fn3-110 |
77 | rs368724043 |
0.993 | None | 1.0 | D | 0.85 | 0.789 | 0.762734841261 | gnomAD-4.0.0 | 6.56771E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.93648E-04 | None | 0 | 0 | 0 | 0 | 0 |
| A/T | 30498 |
Fn3-110 |
77 | None | 0.7894 | -1.926 | 1.0 | D | 0.764 | 0.727 | None | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 6.47E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/T | 30498 |
Fn3-110 |
77 | None | 0.7894 | -1.926 | 1.0 | D | 0.764 | 0.727 | None | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 6.33473E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/V | 30696 |
Fn3-111 |
78 | None | 0.7345 | None | 1.0 | D | 0.715 | 0.687 | 0.663846892577 | gnomAD-4.0.0 | 2.05268E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99494E-07 | 2.31906E-05 | 0 |
| A/V | 30797 |
Fn3-112 |
79 | rs1428714908 |
0.9393 | -0.436 | 1.0 | D | 0.693 | 0.783 | 0.802490267888 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.87E-06 | 0 |
| A/T | 30898 |
Fn3-113 |
78 | None | 0.7333 | None | 1.0 | D | 0.793 | 0.8 | 0.609592032954 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.66327E-05 |
| A/T | 31092 |
Fn3-114 |
77 | None | 0.7999 | None | 0.998 | D | 0.723 | 0.629 | 0.56380075071 | gnomAD-4.0.0 | 1.59117E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85802E-06 | 0 | 0 |
| A/V | 31092 |
Fn3-114 |
77 | rs1458806643 |
0.8632 | -0.557 | 0.999 | D | 0.723 | 0.663 | 0.742516417956 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| A/V | 31092 |
Fn3-114 |
77 | rs1458806643 |
0.8632 | -0.557 | 0.999 | D | 0.723 | 0.663 | 0.742516417956 | gnomAD-4.0.0 | 1.59123E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85804E-06 | 0 | 0 |
| A/T | 31188 |
Fn3-115 |
76 | None | 0.7369 | None | 1.0 | D | 0.797 | 0.841 | 0.637288232684 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| A/V | 31188 |
Fn3-115 |
76 | None | 0.8792 | None | 1.0 | D | 0.697 | 0.729 | 0.781910742172 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 6.33473E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/G | 31586 |
Fn3-118 |
81 | None | 0.6338 | None | 0.998 | D | 0.673 | 0.622 | 0.663397737457 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| A/T | 31784 |
Fn3-119 |
77 | None | 0.8176 | None | 0.946 | D | 0.702 | 0.789 | 0.676012115908 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| A/V | 31784 |
Fn3-119 |
77 | rs1553520967 |
0.874 | None | 0.946 | D | 0.68 | 0.69 | 0.663723012633 |
Palmio (2019)
| None |
HMERF
|
het | None | None | N | Genetic analysis of genes in 12 HMERF families; co-segregates with condition (n = 6, 6 affected (8 total)) | None | None | None | None | None | None | None | None | None | None | None |
| A/S | 31885 |
Fn3-120 |
79 | rs72648263 |
0.5219 | -2.116 | 1.0 | D | 0.648 | 0.606 | 0.53865211836 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.28E-05 | None | 0 | 0 | 0 |
| A/S | 31885 |
Fn3-120 |
79 | rs72648263 |
0.5219 | -2.116 | 1.0 | D | 0.648 | 0.606 | 0.53865211836 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 4.13736E-04 | 0 |
| A/S | 31885 |
Fn3-120 |
79 | rs72648263 |
0.5219 | -2.116 | 1.0 | D | 0.648 | 0.606 | 0.53865211836 | gnomAD-4.0.0 | 1.862E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 3.29975E-05 | 0 |
| A/T | 31885 |
Fn3-120 |
79 | rs72648263 |
0.902 | -1.803 | 1.0 | D | 0.839 | 0.586 | None | gnomAD-2.1.1 | 6.92029E-04 | None | None | None | None | N | None | 1.65426E-04 | 2.55247E-04 | None | 3.99066E-03 | 5.13E-05 | None | 6.57E-05 | None | 8.03E-05 | 9.98333E-04 | 9.88142E-04 |
| A/T | 31885 |
Fn3-120 |
79 | rs72648263 |
0.902 | -1.803 | 1.0 | D | 0.839 | 0.586 | None | gnomAD-3.1.2 | 6.37504E-04 | None | None | None | None | N | None | 1.92994E-04 | 5.23834E-04 | 0 | 4.03691E-03 | 1.92901E-04 | None | 9.43E-05 | 0 | 9.26144E-04 | 0 | 9.58773E-04 |
| A/T | 31885 |
Fn3-120 |
79 | rs72648263 |
0.902 | -1.803 | 1.0 | D | 0.839 | 0.586 | None | gnomAD-4.0.0 | 1.00292E-03 | None | None | None | None | N | None | 1.86682E-04 | 3.17005E-04 | None | 3.32001E-03 | 4.4617E-05 | None | 9.38057E-05 | 0 | 1.20902E-03 | 4.39986E-05 | 7.85634E-04 |
| A/V | 31885 |
Fn3-120 |
79 | rs1307812044 |
0.9222 | None | 1.0 | D | 0.738 | 0.607 | 0.759727701765 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/V | 31885 |
Fn3-120 |
79 | rs1307812044 |
0.9222 | None | 1.0 | D | 0.738 | 0.607 | 0.759727701765 | gnomAD-4.0.0 | 6.20499E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.94203E-06 | 0 | 4.80939E-05 |
| A/S | 31987 |
Fn3-121 |
79 | None | 0.2262 | None | 0.568 | D | 0.373 | 0.468 | 0.484837542351 | gnomAD-4.0.0 | 6.84223E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99504E-06 | 0 | 0 |
| P/S | 32181 |
Fn3-122 |
77 | rs1695557905 |
0.6017 | None | 0.998 | N | 0.771 | 0.391 | 0.287603790349 | gnomAD-4.0.0 | 1.59143E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85843E-06 | 0 | 0 |
| A/T | 32279 |
Fn3-123 |
78 | None | 0.5871 | None | 1.0 | D | 0.784 | 0.741 | 0.630011229279 | gnomAD-4.0.0 | 3.42415E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.50168E-06 | 0 | 0 |
| A/T | 32476 |
Fn3-124 |
78 | rs760169773 |
0.781 | -1.877 | 1.0 | D | 0.778 | 0.64 | None | gnomAD-2.1.1 | 1.43E-05 | None | None | None | None | N | None | 0 | 2.84E-05 | None | 0 | 0 | None | 0 | None | 0 | 2.35E-05 | 0 |
| A/T | 32476 |
Fn3-124 |
78 | rs760169773 |
0.781 | -1.877 | 1.0 | D | 0.778 | 0.64 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/T | 32476 |
Fn3-124 |
78 | rs760169773 |
0.781 | -1.877 | 1.0 | D | 0.778 | 0.64 | None | gnomAD-4.0.0 | 1.30189E-05 | None | None | None | None | N | None | 1.33533E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.52606E-05 | 0 | 3.2039E-05 |
| A/V | 32476 |
Fn3-124 |
78 | None | 0.8647 | None | 1.0 | D | 0.711 | 0.613 | 0.762146552022 | gnomAD-4.0.0 | 1.5928E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.78381E-05 | None | 0 | 0 | 0 | 0 | 0 |
| A/E | 32872 |
Fn3-127 |
78 | None | 0.9923 | None | 0.993 | D | 0.811 | 0.769 | 0.769386222844 | gnomAD-4.0.0 | 6.84197E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.9946E-07 | 0 | 0 |
| A/G | 32872 |
Fn3-127 |
78 | rs150288160 |
0.3987 | -2.121 | 0.955 | D | 0.605 | 0.702 | None | gnomAD-2.1.1 | 1.2E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.67075E-04 | None | 0 | None | 0 | 0 | 0 |
| A/G | 32872 |
Fn3-127 |
78 | rs150288160 |
0.3987 | -2.121 | 0.955 | D | 0.605 | 0.702 | None | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 7.7101E-04 | None | 0 | 0 | 0 | 0 | 0 |
| A/G | 32872 |
Fn3-127 |
78 | rs150288160 |
0.3987 | -2.121 | 0.955 | D | 0.605 | 0.702 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 1E-03 | 0 | None | None | None | 0 | None |
| A/G | 32872 |
Fn3-127 |
78 | rs150288160 |
0.3987 | -2.121 | 0.955 | D | 0.605 | 0.702 | None | gnomAD-4.0.0 | 2.35467E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 8.02318E-04 | None | 0 | 0 | 0 | 0 | 3.20123E-05 |
| A/S | 32872 |
Fn3-127 |
78 | rs1326692589 |
0.3134 | -2.073 | 0.568 | N | 0.362 | 0.496 | 0.29527378943 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.87E-06 | 0 |
| A/S | 32872 |
Fn3-127 |
78 | rs1326692589 |
0.3134 | -2.073 | 0.568 | N | 0.362 | 0.496 | 0.29527378943 | gnomAD-4.0.0 | 1.59122E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85822E-06 | 0 | 0 |
| A/T | 32974 |
Fn3-128 |
79 | rs374454949 |
0.7411 | -1.627 | 1.0 | D | 0.835 | 0.615 | None | gnomAD-2.1.1 | 4.02E-05 | None | None | None | None | N | None | 0 | 1.45003E-04 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 3.56E-05 | 0 |
| A/T | 32974 |
Fn3-128 |
79 | rs374454949 |
0.7411 | -1.627 | 1.0 | D | 0.835 | 0.615 | None | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| A/T | 32974 |
Fn3-128 |
79 | rs374454949 |
0.7411 | -1.627 | 1.0 | D | 0.835 | 0.615 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 1E-03 | None | None | None | 0 | None |
| A/T | 32974 |
Fn3-128 |
79 | rs374454949 |
0.7411 | -1.627 | 1.0 | D | 0.835 | 0.615 | None | gnomAD-4.0.0 | 3.28439E-05 | None | None | None | None | N | None | 0 | 6.66533E-05 | None | 0 | 2.22866E-05 | None | 0 | 0 | 3.47545E-05 | 3.29402E-05 | 6.40348E-05 |
| A/V | 33075 |
Fn3-129 |
78 | rs373447560 |
0.7877 | -0.689 | 1.0 | D | 0.715 | 0.617 | None | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 1.65782E-04 |
| A/V | 33075 |
Fn3-129 |
78 | rs373447560 |
0.7877 | -0.689 | 1.0 | D | 0.715 | 0.617 | None | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| A/V | 33075 |
Fn3-129 |
78 | rs373447560 |
0.7877 | -0.689 | 1.0 | D | 0.715 | 0.617 | None | gnomAD-4.0.0 | 8.67659E-06 | None | None | None | None | N | None | 1.33536E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.10195E-05 | 0 | 0 |
| C/W | 33469 |
Fn3-131 |
78 | rs979276403 |
0.9915 | None | 1.0 | N | 0.875 | 0.395 | 0.410868550352 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.54E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| C/W | 33469 |
Fn3-131 |
78 | rs979276403 |
0.9915 | None | 1.0 | N | 0.875 | 0.395 | 0.410868550352 | gnomAD-4.0.0 | 2.56226E-06 | None | None | None | None | N | None | 1.69107E-05 | 1.69486E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/D | 33764 |
Fn3-132 |
76 | None | 0.999 | -2.459 | 1.0 | D | 0.896 | 0.887 | 0.815499709358 | gnomAD-2.1.1 | 7.13E-06 | None | None | None | None | N | None | 4.13E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 7.8E-06 | 0 |
| A/D | 33764 |
Fn3-132 |
76 | None | 0.999 | -2.459 | 1.0 | D | 0.896 | 0.887 | 0.815499709358 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 3.16456E-03 | 0 | 0 | 0 |
| A/D | 33764 |
Fn3-132 |
76 | None | 0.999 | -2.459 | 1.0 | D | 0.896 | 0.887 | 0.815499709358 | gnomAD-4.0.0 | 1.97179E-05 | None | None | None | None | N | None | 4.82882E-05 | 0 | None | 0 | 0 | None | 0 | 3.16456E-03 | 0 | 0 | 0 |
| A/G | 33764 |
Fn3-132 |
76 | rs773542514 |
0.6618 | -2.959 | 0.291 | D | 0.371 | 0.717 | 0.514755673002 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 5.79E-05 | None | 0 | 0 | None | 0 | None | 0 | 8.87E-06 | 0 |
| A/G | 33764 |
Fn3-132 |
76 | rs773542514 |
0.6618 | -2.959 | 0.291 | D | 0.371 | 0.717 | 0.514755673002 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 1.30924E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/G | 33764 |
Fn3-132 |
76 | rs773542514 |
0.6618 | -2.959 | 0.291 | D | 0.371 | 0.717 | 0.514755673002 | gnomAD-4.0.0 | 9.91498E-06 | None | None | None | None | N | None | 0 | 8.33361E-05 | None | 0 | 0 | None | 1.56357E-05 | 1.64366E-04 | 5.08539E-06 | 1.09789E-05 | 3.20174E-05 |
| A/V | 33764 |
Fn3-132 |
76 | rs773542514 |
0.9102 | -1.416 | 1.0 | D | 0.726 | 0.788 | 0.707210613629 | gnomAD-2.1.1 | 4.64E-05 | None | None | None | None | N | None | 4.13E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.36E-05 | 0 |
| A/V | 33764 |
Fn3-132 |
76 | rs773542514 |
0.9102 | -1.416 | 1.0 | D | 0.726 | 0.788 | 0.707210613629 | gnomAD-3.1.2 | 6.57E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.17588E-04 | 0 | 0 |
| A/V | 33764 |
Fn3-132 |
76 | rs773542514 |
0.9102 | -1.416 | 1.0 | D | 0.726 | 0.788 | 0.707210613629 | gnomAD-4.0.0 | 9.85301E-05 | None | None | None | None | N | None | 4.00609E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.2883E-04 | 0 | 6.40348E-05 |
Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.