Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1553540620
rs1553540620
IHH ; MIR3131
2 1.000 2 219060317 missense variant G/T snv 0.700 0
dbSNP: rs1554818362
rs1554818362
RET
2 1.000 10 43109163 missense variant C/T snv 0.700 0
dbSNP: rs1555202697
rs1555202697
BBS10
5 0.882 0.160 12 76347446 missense variant C/T snv 0.700 0
dbSNP: rs1564494285
rs1564494285
RET
6 0.882 0.200 10 43111219 frameshift variant TG/- delins 0.700 0
dbSNP: rs1569167586
rs1569167586
POLR2F ; SOX10
9 0.851 0.160 22 37973687 frameshift variant AGTAG/- delins 0.700 0
dbSNP: rs1569169328
rs1569169328
POLR2F ; SOX10
3 0.925 0.200 22 37978136 splice acceptor variant C/T snv 0.700 0
dbSNP: rs537874538
rs537874538
RET
2 1.000 10 43111381 missense variant G/A snv 2.7E-04 5.6E-05 0.700 0
dbSNP: rs773779627
rs773779627
EDN3
5 1.000 0.080 20 59301689 missense variant G/A;T snv 4.0E-06 0.700 0
dbSNP: rs886041239
rs886041239
SMC3
9 1.000 0.160 10 110593202 missense variant A/G snv 0.700 0