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Basic Information

SAV Position Domain position
RS Q(SASA) Source Structural position

Pathogenicity / Stability Predictions

AlphaMissense (IC) AlphaMissense (N2AB)
CADD Condel DUET FATHMM M-CAP
mCSM MetaLR MetaSVM MPC MutationAssessor
MutationTaster MutPred MVP PolyPhen-2
PrimateAI PROVEAN REVEL Rhapsody SIFT

Disease Associations

Disease Zygosity Comments

Population Frequencies

Whole Population MAF African (AFR) Latin American (AMR)
Amish (AMS) Ashkenazi Jewish (ASJ) East Asian (EAS)
European/1KGP (EUR) Finnish (FIN) Middle Eastern (MDE)
Non-Finnish European (NFE) South Asian (SAS) Other (OTH)

Other Annotations

Site Annotation Predicted PPI site mCSM-PPI

10 20 30 40 50 60 70 80 90
A P S P P D S L N I M D I T K S T V S L A W P K P K H D G G S K I T G Y V I E A Q R K G S D Q W T H I T T V K G L E C V V R N L T E G E E Y T F Q V M A V N S A G R S A P R E S R P V I V K E Q
A P S P P D S L N I M D I T K S T V S L A W P K P K H D G G S K I T G Y V I E A Q R K G S D Q W T H I T T V K G L E C V V R N L T E G E E Y T F Q V M A V N S A G R S A P R E S R P V I V K E -

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
23532 1 A/G 1 None 0.4151 None gnomAD-4.0.0 6.84252E-07
23532 1 A/T 1 None 0.4151 None gnomAD-4.0.0 3.18297E-06
23532 1 A/V 1 rs1389381134 0.4151 None gnomAD-2.1.1 7.15E-06
23532 1 A/V 1 rs1389381134 0.4151 None gnomAD-3.1.2 6.57E-06
23532 1 A/V 1 rs1389381134 0.4151 None gnomAD-4.0.0 7.43705E-06
23533 2 P/A 2 rs886055250 0.1129 None gnomAD-2.1.1 4.02E-06
23533 2 P/A 2 rs886055250 0.1129 None gnomAD-4.0.0 1.59148E-06
23533 2 P/Q 2 rs747427532 0.1129 None gnomAD-2.1.1 8.05E-06
23533 2 P/Q 2 rs747427532 0.1129 None gnomAD-3.1.2 1.32E-05
23533 2 P/Q 2 rs747427532 0.1129 None gnomAD-4.0.0 3.84413E-06
23533 2 P/S 2 rs886055250 0.1129 None gnomAD-4.0.0 1.59148E-06
23534 3 S/F 3 None 0.1264 None gnomAD-4.0.0 2.40064E-06
23535 4 P/L 4 None 0.3058 None gnomAD-4.0.0 1.59147E-06
23535 4 P/R 4 None 0.3058 None gnomAD-4.0.0 1.59147E-06
23536 5 P/A 5 None 0.1135 None gnomAD-4.0.0 1.59146E-06
23537 6 D/V 6 rs1193472633 0.5681 None gnomAD-2.1.1 3.19E-05
23538 7 S/T 7 rs778696920 0.3069 None gnomAD-2.1.1 4.03E-06
23538 7 S/T 7 rs778696920 0.3069 None gnomAD-4.0.0 1.36849E-06
23539 8 L/R 9 None 0.1403 None gnomAD-4.0.0 3.18286E-06
23541 10 I/N 12 None 0.2293 None gnomAD-4.0.0 1.59146E-06
23541 10 I/T 12 None 0.2293 None gnomAD-4.0.0 1.59146E-06
23541 10 I/V 12 None 0.2293 None gnomAD-4.0.0 1.36848E-06
23542 11 M/K 13 None 0.5298 None gnomAD-4.0.0 6.84243E-07
23542 11 M/R 13 rs727503570 0.5298 None gnomAD-4.0.0 6.84243E-07
23542 11 M/T 13 rs727503570 0.5298 None gnomAD-4.0.0 1.36849E-06
23542 11 M/V 13 rs878918075 0.5298 None gnomAD-4.0.0 1.59144E-06
23543 12 D/E 14 rs376809423 0.6087 None gnomAD-4.0.0 3.42122E-06
23543 12 D/N 14 None 0.6087 None gnomAD-4.0.0 1.59149E-06
23544 13 I/L 15 None 0.1594 None gnomAD-4.0.0 6.84248E-07
23544 13 I/V 15 rs1424128592 0.1594 None gnomAD-2.1.1 7.15E-06
23544 13 I/V 15 rs1424128592 0.1594 None gnomAD-3.1.2 1.97E-05
23544 13 I/V 15 rs1424128592 0.1594 None gnomAD-4.0.0 4.95789E-06
23545 14 T/I 16 None 0.2508 None gnomAD-4.0.0 6.84245E-07
23545 14 T/S 16 rs1247049807 0.2508 None gnomAD-4.0.0 6.84245E-07
23546 15 K/E 17 None 0.6131 None gnomAD-4.0.0 1.20032E-06
23547 16 S/T 18 rs1553613338 0.3075 None gnomAD-4.0.0 1.59151E-06
23549 18 V/I 20 rs755669336 0.0980 None gnomAD-2.1.1 5.72E-05
23549 18 V/I 20 rs755669336 0.0980 None gnomAD-3.1.2 5.26E-05
23549 18 V/I 20 rs755669336 0.0980 None gnomAD-4.0.0 3.96647E-05
23552 21 A/E 23 None 0.1602 None gnomAD-4.0.0 6.84263E-07
23552 21 A/T 23 None 0.1602 None gnomAD-4.0.0 6.84269E-07
23552 21 A/V 23 rs754742503 0.1602 None gnomAD-2.1.1 8.06E-06
23552 21 A/V 23 rs754742503 0.1602 None gnomAD-3.1.2 6.57E-06
23552 21 A/V 23 rs754742503 0.1602 None gnomAD-4.0.0 6.19752E-06
23553 22 W/G 24 None 0.1158 None gnomAD-4.0.0 1.59155E-06
23554 23 P/S 25 None 0.3359 None gnomAD-4.0.0 2.40064E-06
23555 24 K/R 26 rs1246011660 0.7263 None gnomAD-2.1.1 4.03E-06
23555 24 K/R 26 rs1246011660 0.7263 None gnomAD-4.0.0 1.59159E-06
23556 25 P/A 27 rs750670403 0.1740 None gnomAD-2.1.1 4.03E-06
23556 25 P/A 27 rs750670403 0.1740 None gnomAD-4.0.0 6.84277E-07
23556 25 P/L 27 rs1230878552 0.1740 None gnomAD-2.1.1 4.03E-06
23556 25 P/L 27 rs1230878552 0.1740 None gnomAD-4.0.0 1.5916E-06
23556 25 P/T 27 rs750670403 0.1740 None gnomAD-2.1.1 1.61E-05
23556 25 P/T 27 rs750670403 0.1740 None gnomAD-4.0.0 5.47422E-06
23557 26 K/N 28 None 0.7022 None gnomAD-4.0.0 2.40064E-06
23558 27 H/D 29 None 0.4860 None gnomAD-4.0.0 2.05285E-06
23558 27 H/Q 29 rs761993177 0.4860 None gnomAD-2.1.1 4.03E-06
23558 27 H/Q 29 rs761993177 0.4860 None gnomAD-4.0.0 6.84298E-07
23558 27 H/R 29 rs765191581 0.4860 None gnomAD-2.1.1 1.61E-05
23558 27 H/R 29 rs765191581 0.4860 None gnomAD-3.1.2 3.29E-05
23558 27 H/R 29 rs765191581 0.4860 None gnomAD-4.0.0 8.05712E-06
23558 27 H/Y 29 None 0.4860 None gnomAD-4.0.0 6.84285E-07
23559 28 D/G 30 rs1388522389 0.3469 None gnomAD-2.1.1 4.03E-06
23559 28 D/H 30 None 0.3469 None gnomAD-4.0.0 6.84298E-07
23559 28 D/N 30 rs777257261 0.3469 None gnomAD-2.1.1 8.06E-06
23559 28 D/N 30 rs777257261 0.3469 None gnomAD-3.1.2 6.57E-06
23559 28 D/N 30 rs777257261 0.3469 None gnomAD-4.0.0 5.57805E-06
23560 29 G/D 31 rs1458227087 0.4017 None gnomAD-2.1.1 4.03E-06
23560 29 G/D 31 rs1458227087 0.4017 None gnomAD-4.0.0 4.79002E-06
23561 30 G/D 32 rs1389317118 0.7126 None gnomAD-2.1.1 8.06E-06
23561 30 G/D 32 rs1389317118 0.7126 None gnomAD-4.0.0 3.18353E-06
23562 31 S/I 33 rs761119454 0.2934 None gnomAD-2.1.1 8.06E-06
23562 31 S/I 33 rs761119454 0.2934 None gnomAD-3.1.2 6.57E-06
23562 31 S/I 33 rs761119454 0.2934 None gnomAD-4.0.0 1.54948E-05
23562 31 S/N 33 None 0.2934 None gnomAD-4.0.0 6.84312E-07
23563 32 K/N 34 rs775933082 0.8373 None gnomAD-4.0.0 6.84314E-07
23564 33 I/F 35 None 0.1984 None gnomAD-4.0.0 1.5917E-06
23566 35 G/R 37 rs55801134 0.1365 None gnomAD-2.1.1 1.20408E-02
23566 35 G/R 37 rs55801134 0.1365 None gnomAD-3.1.2 1.15781E-02
23566 35 G/R 37 rs55801134 0.1365 None 1000 genomes 4.39297E-03
23566 35 G/R 37 rs55801134 0.1365 None gnomAD-4.0.0 1.31106E-02
23566 35 G/V 37 None 0.1365 None gnomAD-4.0.0 1.59175E-06
23567 36 Y/C 38 rs1004548694 0.1153 None gnomAD-2.1.1 4.03E-06
23567 36 Y/C 38 rs1004548694 0.1153 None gnomAD-3.1.2 6.57E-06
23567 36 Y/C 38 rs1004548694 0.1153 None gnomAD-4.0.0 1.85931E-06
23567 36 Y/S 38 rs1004548694 0.1153 None gnomAD-4.0.0 1.36859E-06
23568 37 V/M 39 rs748847402 0.1395 None gnomAD-2.1.1 4.03E-06
23568 37 V/M 39 rs748847402 0.1395 None gnomAD-4.0.0 3.18351E-06
23569 38 I/T 40 rs1395180090 0.0855 None gnomAD-4.0.0 2.73717E-06
23569 38 I/V 40 rs1283599647 0.0855 None gnomAD-2.1.1 3.19E-05
23569 38 I/V 40 rs1283599647 0.0855 None gnomAD-3.1.2 1.31E-05
23569 38 I/V 40 rs1283599647 0.0855 None gnomAD-4.0.0 1.31451E-05
23570 39 E/K 41 None 0.1462 None gnomAD-4.0.0 1.59174E-06
23571 40 A/T 42 None 0.1039 None gnomAD-4.0.0 2.40064E-06
23572 41 Q/H 43 rs747703704 0.2115 None gnomAD-2.1.1 3.57E-05
23572 41 Q/H 43 rs747703704 0.2115 None gnomAD-3.1.2 1.31E-05
23572 41 Q/H 43 rs747703704 0.2115 None gnomAD-4.0.0 6.84288E-07
23574 43 K/R 50 rs781090352 0.5729 None gnomAD-2.1.1 4.03E-06
23574 43 K/R 50 rs781090352 0.5729 None gnomAD-4.0.0 1.20032E-06
23575 44 G/D 54 rs754974293 0.7093 None gnomAD-2.1.1 1.61E-05
23575 44 G/D 54 rs754974293 0.7093 None gnomAD-4.0.0 1.02644E-05
23575 44 G/R 54 None 0.7093 None gnomAD-4.0.0 1.59171E-06
23575 44 G/V 54 rs754974293 0.7093 None gnomAD-4.0.0 6.84293E-07
23576 45 S/F 60 None 0.3165 None gnomAD-4.0.0 1.59174E-06
23577 46 D/N 63 rs1343180009 1.0720 None gnomAD-2.1.1 4.02E-06
23577 46 D/N 63 rs1343180009 1.0720 None gnomAD-4.0.0 1.59174E-06
23578 47 Q/H 64 rs1342674248 0.8471 None gnomAD-2.1.1 3.19E-05
23578 47 Q/H 64 rs1342674248 0.8471 None gnomAD-4.0.0 1.59176E-06
23578 47 Q/R 64 rs1332842062 0.8471 None gnomAD-2.1.1 4.02E-06
23578 47 Q/R 64 rs1332842062 0.8471 None gnomAD-4.0.0 1.59175E-06
23579 48 W/G 65 rs1462359637 0.3230 None gnomAD-3.1.2 6.57E-06
23579 48 W/G 65 rs1462359637 0.3230 None gnomAD-4.0.0 1.85933E-06
23580 49 T/I 66 rs779765346 0.5426 None gnomAD-3.1.2 6.57E-06
23580 49 T/I 66 rs779765346 0.5426 None gnomAD-4.0.0 6.5741E-06
23580 49 T/S 66 rs779765346 0.5426 None gnomAD-2.1.1 8.05E-06
23580 49 T/S 66 rs779765346 0.5426 None gnomAD-4.0.0 1.36861E-05
23581 50 H/R 67 None 0.4122 None gnomAD-4.0.0 1.59172E-06
23582 51 I/L 68 rs1305914437 0.2981 None gnomAD-2.1.1 4.02E-06
23582 51 I/L 68 rs1305914437 0.2981 None gnomAD-4.0.0 3.18338E-06
23583 52 T/I 69 rs397517687 0.2958 None gnomAD-4.0.0 6.84289E-07
23583 52 T/K 69 rs397517687 0.2958 None gnomAD-2.1.1 4.02E-05
23583 52 T/K 69 rs397517687 0.2958 None gnomAD-3.1.2 1.97E-05
23583 52 T/K 69 rs397517687 0.2958 None gnomAD-4.0.0 2.47906E-05
23584 53 T/A 70 rs765545404 0.3890 None gnomAD-2.1.1 4.02E-06
23584 53 T/A 70 rs765545404 0.3890 None gnomAD-4.0.0 3.18344E-06
23584 53 T/I 70 rs1444861045 0.3890 None gnomAD-3.1.2 6.57E-06
23584 53 T/I 70 rs1444861045 0.3890 None gnomAD-4.0.0 6.57479E-06
23585 54 V/A 77 None 0.2008 None gnomAD-4.0.0 1.20032E-06
23585 54 V/M 77 rs754040141 0.2008 None gnomAD-2.1.1 2.01E-05
23585 54 V/M 77 rs754040141 0.2008 None gnomAD-3.1.2 1.31E-05
23585 54 V/M 77 rs754040141 0.2008 None gnomAD-4.0.0 1.05363E-05
23587 56 G/R 88 None 0.2969 None gnomAD-4.0.0 2.7372E-06
23588 57 L/S 89 None 0.2689 None gnomAD-4.0.0 4.79008E-06
23589 58 E/K 90 None 0.7236 None gnomAD-4.0.0 1.59176E-06
23589 58 E/Q 90 rs776167958 0.7236 None gnomAD-2.1.1 8.05E-06
23589 58 E/Q 90 rs776167958 0.7236 None gnomAD-3.1.2 6.57E-06
23589 58 E/Q 90 rs776167958 0.7236 None gnomAD-4.0.0 6.57177E-06
23590 59 C/S 91 None 0.1737 None gnomAD-4.0.0 1.59171E-06
23592 61 V/M 93 rs1404037979 0.1559 None gnomAD-2.1.1 3.19E-05
23592 61 V/M 93 rs1404037979 0.1559 None gnomAD-3.1.2 6.57E-06
23592 61 V/M 93 rs1404037979 0.1559 None gnomAD-4.0.0 6.08973E-06
23593 62 R/G 94 rs930124570 0.5796 None gnomAD-2.1.1 7.15E-06
23593 62 R/G 94 rs930124570 0.5796 None gnomAD-3.1.2 1.31E-05
23593 62 R/G 94 rs930124570 0.5796 None gnomAD-4.0.0 3.84434E-06
23593 62 R/K 94 None 0.5796 None gnomAD-4.0.0 2.40064E-06
23594 63 N/D 96 None 0.9351 None gnomAD-4.0.0 6.84314E-07
23594 63 N/Y 96 None 0.9351 None gnomAD-4.0.0 6.84314E-07
23595 64 L/P 97 rs886055249 0.1447 None gnomAD-2.1.1 4.02E-06
23595 64 L/P 97 rs886055249 0.1447 None gnomAD-3.1.2 6.57E-06
23595 64 L/P 97 rs886055249 0.1447 None gnomAD-4.0.0 6.4075E-06
23596 65 T/A 98 rs574577289 0.4855 None gnomAD-2.1.1 4.02E-06
23596 65 T/A 98 rs574577289 0.4855 None gnomAD-3.1.2 6.57E-06
23596 65 T/A 98 rs574577289 0.4855 None 1000 genomes 1.99681E-04
23596 65 T/A 98 rs574577289 0.4855 None gnomAD-4.0.0 6.56728E-06
23598 67 G/E 100 rs1256646891 0.3880 None gnomAD-2.1.1 4.02E-06
23598 67 G/E 100 rs1256646891 0.3880 None gnomAD-4.0.0 1.59185E-06
23598 67 G/R 100 None 0.3880 None gnomAD-4.0.0 1.59184E-06
23599 68 E/K 102 rs772715686 0.2553 None gnomAD-2.1.1 1.21E-05
23599 68 E/K 102 rs772715686 0.2553 None gnomAD-4.0.0 6.84326E-06
23599 68 E/Q 102 None 0.2553 None gnomAD-4.0.0 6.84326E-07
23600 69 E/A 103 rs1168061388 0.2418 None gnomAD-2.1.1 3.19E-05
23600 69 E/A 103 rs1168061388 0.2418 None gnomAD-3.1.2 6.57E-06
23600 69 E/A 103 rs1168061388 0.2418 None gnomAD-4.0.0 6.57488E-06
23600 69 E/D 103 None 0.2418 None gnomAD-4.0.0 1.59193E-06
23600 69 E/G 103 None 0.2418 None gnomAD-4.0.0 2.40067E-06
23601 70 Y/C 104 rs1421650962 0.1543 None gnomAD-2.1.1 3.19E-05
23601 70 Y/C 104 rs1421650962 0.1543 None gnomAD-3.1.2 1.31E-05
23601 70 Y/C 104 rs1421650962 0.1543 None gnomAD-4.0.0 7.10501E-06
23601 70 Y/N 104 None 0.1543 None gnomAD-4.0.0 1.20034E-06
23601 70 Y/S 104 rs1421650962 0.1543 None gnomAD-3.1.2 6.57E-06
23601 70 Y/S 104 rs1421650962 0.1543 None gnomAD-4.0.0 6.5741E-06
23602 71 T/S 105 None 0.1791 None gnomAD-4.0.0 1.59192E-06
23603 72 F/L 106 None 0.1206 None gnomAD-4.0.0 1.59189E-06
23604 73 Q/E 107 rs747651345 0.0998 None gnomAD-2.1.1 4.03E-06
23604 73 Q/E 107 rs747651345 0.0998 None gnomAD-3.1.2 6.58E-06
23604 73 Q/E 107 rs747651345 0.0998 None gnomAD-4.0.0 2.47935E-06
23604 73 Q/L 107 rs780611891 0.0998 None gnomAD-2.1.1 4.03E-06
23604 73 Q/P 107 None 0.0998 None gnomAD-4.0.0 2.40064E-06
23605 74 V/L 108 rs368325616 0.0794 None gnomAD-4.0.0 1.98455E-05
23605 74 V/M 108 None 0.0794 None gnomAD-4.0.0 6.84329E-07
23606 75 M/T 109 rs371030086 0.1031 None gnomAD-2.1.1 5E-05
23606 75 M/T 109 rs371030086 0.1031 None gnomAD-3.1.2 2.23508E-04
23606 75 M/T 109 rs371030086 0.1031 None gnomAD-4.0.0 3.59464E-05
23607 76 A/T 110 rs786205539 0.0759 None gnomAD-2.1.1 3.19E-05
23607 76 A/T 110 rs786205539 0.0759 None gnomAD-3.1.2 1.31E-05
23607 76 A/T 110 rs786205539 0.0759 None gnomAD-4.0.0 4.06004E-06
23608 77 V/L 111 rs780081686 0.1859 None gnomAD-3.1.2 6.57E-06
23608 77 V/L 111 rs780081686 0.1859 None gnomAD-4.0.0 6.57289E-06
23608 77 V/M 111 rs780081686 0.1859 None gnomAD-2.1.1 4.03E-06
23608 77 V/M 111 rs780081686 0.1859 None gnomAD-4.0.0 3.18394E-06
23610 79 S/R 113 rs12464787 0.6796 None gnomAD-2.1.1 8.06E-06
23610 79 S/R 113 rs12464787 0.6796 None gnomAD-4.0.0 2.05324E-06
23611 80 A/E 114 rs72646891 0.5812 None gnomAD-4.0.0 6.84362E-07
23611 80 A/T 114 rs373765469 0.5812 None gnomAD-2.1.1 5.64E-05
23611 80 A/T 114 rs373765469 0.5812 None gnomAD-3.1.2 3.94E-05
23611 80 A/T 114 rs373765469 0.5812 None gnomAD-4.0.0 4.15287E-05
23611 80 A/V 114 rs72646891 0.5812 None gnomAD-2.1.1 9.83717E-04
23611 80 A/V 114 rs72646891 0.5812 None gnomAD-3.1.2 2.97964E-03
23611 80 A/V 114 rs72646891 0.5812 None 1000 genomes 4.19329E-03
23611 80 A/V 114 rs72646891 0.5812 None gnomAD-4.0.0 5.78914E-04
23612 81 G/R 115 None 0.2487 None gnomAD-4.0.0 1.59207E-06
23612 81 G/V 115 rs1273610292 0.2487 None gnomAD-2.1.1 3.19E-05
23612 81 G/V 115 rs1273610292 0.2487 None gnomAD-3.1.2 6.58E-06
23612 81 G/V 115 rs1273610292 0.2487 None gnomAD-4.0.0 2.56344E-06
23613 82 R/K 117 rs1383287130 0.4242 None gnomAD-3.1.2 6.57E-06
23613 82 R/K 117 rs1383287130 0.4242 None gnomAD-4.0.0 6.57454E-06
23614 83 S/G 118 None 0.1026 None gnomAD-4.0.0 1.20034E-06
23614 83 S/N 118 None 0.1026 None gnomAD-4.0.0 2.0531E-06
23614 83 S/T 118 rs1237254642 0.1026 None gnomAD-2.1.1 4.03E-06
23614 83 S/T 118 rs1237254642 0.1026 None gnomAD-4.0.0 1.36873E-06
23615 84 A/T 119 rs574614034 0.4130 None gnomAD-2.1.1 7.16E-06
23615 84 A/T 119 rs574614034 0.4130 None gnomAD-3.1.2 1.32E-05
23615 84 A/T 119 rs574614034 0.4130 None gnomAD-4.0.0 2.47953E-06
23615 84 A/V 119 None 0.4130 None gnomAD-4.0.0 2.40068E-06
23616 85 P/H 120 None 0.4146 None gnomAD-4.0.0 1.59222E-06
23617 86 R/K 121 None 0.2815 None gnomAD-4.0.0 1.59219E-06
23617 86 R/T 121 None 0.2815 None gnomAD-4.0.0 1.59219E-06
23619 88 S/C 123 None 0.1522 None gnomAD-4.0.0 6.84391E-07
23619 88 S/G 123 rs372823646 0.1522 None gnomAD-2.1.1 1.79E-05
23619 88 S/G 123 rs372823646 0.1522 None gnomAD-3.1.2 3.94E-05
23619 88 S/G 123 rs372823646 0.1522 None gnomAD-4.0.0 4.89694E-05
23621 90 P/S 126 None 0.4740 None gnomAD-4.0.0 1.36881E-06
23621 90 P/T 126 None 0.4740 None gnomAD-4.0.0 6.84406E-07
23622 91 V/A 127 None 0.1347 None gnomAD-4.0.0 3.18454E-06
23622 91 V/I 127 rs72646892 0.1347 None gnomAD-2.1.1 4.03E-05
23622 91 V/I 127 rs72646892 0.1347 None gnomAD-3.1.2 8.55E-05
23622 91 V/I 127 rs72646892 0.1347 None gnomAD-4.0.0 4.09147E-05
23623 92 I/T 129 rs1709646432 0.4892 None gnomAD-4.0.0 1.20032E-06
23623 92 I/V 129 rs1218196881 0.4892 None gnomAD-2.1.1 3.19E-05
23623 92 I/V 129 rs1218196881 0.4892 None gnomAD-3.1.2 6.57E-06
23623 92 I/V 129 rs1218196881 0.4892 None gnomAD-4.0.0 6.57419E-06
23624 93 V/A 130 None 0.0865 None gnomAD-4.0.0 1.20032E-06
23624 93 V/L 130 rs761395692 0.0865 None gnomAD-2.1.1 2.02E-05
23624 93 V/L 130 rs761395692 0.0865 None gnomAD-4.0.0 1.02662E-05