Disease: Majewski Syndrome
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121908425
EVC ; CRMP1
0.763 0.160 4 5748226 stop gained C/A;T snv 3.2E-05; 1.2E-05 14
rs771487311
DYNC2H1
0.882 0.120 11 103255530 missense variant T/C snv 1.9E-05 7.0E-05 5