Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs779027563
CNTNAP1
0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06 58
rs1114167445
SPTBN4
0.851 0.160 19 40504064 stop gained C/T snv 8.0E-06 15
rs28928910
NEFL
0.827 0.200 8 24956452 missense variant G/A;T snv 10
rs1057518780
GJB1
0.882 0.200 X 71224209 missense variant T/G snv 8
rs121913589
MPZ
0.827 0.200 1 161306863 missense variant C/A;G;T snv 7