Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1569167586
POLR2F ; SOX10
0.851 0.160 22 37973687 frameshift variant AGTAG/- delins 9
rs886041239
SMC3
1.000 0.160 10 110593202 missense variant A/G snv 9
rs1564494285
RET
0.882 0.200 10 43111219 frameshift variant TG/- delins 6
rs1555202697
BBS10
0.882 0.160 12 76347446 missense variant C/T snv 5
rs773779627
EDN3
1.000 0.080 20 59301689 missense variant G/A;T snv 4.0E-06 5
rs1569169328
POLR2F ; SOX10
0.925 0.200 22 37978136 splice acceptor variant C/T snv 3
rs1553540620
MIR3131 ; IHH
1.000 2 219060317 missense variant G/T snv 2
rs1554818362
RET
1.000 10 43109163 missense variant C/T snv 2
rs537874538
RET
1.000 10 43111381 missense variant G/A snv 2.7E-04 5.6E-05 2