Disease: RCM

Position Domain Domain position SNV RS Source Comments MAF Zygosity Structural Position AlphaMissense (IC) REVEL Rhapsody DUET PolyPhen-2 Condel
Q(SASA)
Site annotation
mCSM PPI
Predicted PPI site
 AFR AMR EAS EUR FIN NFE SAS
16686 Fn3-9 36 Y/C rs2056512518 Peled (2013) Segregation analysis in single RCM family, co-segregates with phenotype (n = 5, 5 affected (total 13)) None het 38 0.9745 0.962 0.887 -2.208 1.0 None 0.1035 None None N None None None None None None None