Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs753611141
PMPCA
0.827 0.280 9 136418847 missense variant G/A;T snv 2.4E-05; 4.0E-06 14
rs768643552
PMPCA
0.851 0.240 9 136418630 missense variant G/A;C snv 4.0E-06 13
rs886039809
KIAA0586
0.807 0.480 14 58498824 frameshift variant A/- del 11
rs74315442
CSTB
0.851 0.200 21 43774297 stop gained G/A snv 4.0E-05 2.1E-05 10
rs864309505
TPP1
0.807 0.200 11 6615220 missense variant T/G snv 10
rs1057518934
HERC2
0.851 0.240 15 28211095 frameshift variant G/- delins 8