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: rs1085307138
rs1085307138
9 0.807 0.160 8 143817591 splice donor variant C/T snv 0.700 0
dbSNP: rs113624356
rs113624356
22 0.724 0.400 11 66526181 missense variant T/G snv 1.5E-03 2.1E-03 0.700 0
dbSNP: rs1163162816
rs1163162816
2 0.925 0.080 12 48968320 splice acceptor variant C/G;T snv 7.0E-06 0.700 0
dbSNP: rs121908175
rs121908175
8 0.790 0.160 16 56519791 stop gained G/C snv 5.2E-05 2.8E-05 0.700 0
dbSNP: rs121908425
rs121908425
14 0.763 0.160 4 5748226 stop gained C/A;T snv 3.2E-05; 1.2E-05 0.700 0
dbSNP: rs121918327
rs121918327
12 0.776 0.240 4 122742955 stop gained C/T snv 2.8E-05 1.4E-05 0.700 0
dbSNP: rs137852832
rs137852832
17 0.716 0.280 12 88077263 stop gained C/A snv 9.5E-05 6.3E-05 0.700 0
dbSNP: rs137853105
rs137853105
4 0.882 0.160 17 58206479 missense variant A/C snv 5.6E-05 2.8E-05 0.700 0
dbSNP: rs147030232
rs147030232
8 0.827 0.160 16 56501014 stop gained G/A;C snv 2.0E-05; 4.0E-06 0.700 0
dbSNP: rs1488635637
rs1488635637
6 0.827 0.360 17 58208003 splice acceptor variant T/C;G snv 7.0E-06 0.700 0
dbSNP: rs1565329461
rs1565329461
9 0.851 0.200 11 103135949 splice donor variant G/A snv 0.700 0
dbSNP: rs200750564
rs200750564
6 0.827 0.160 2 176094518 stop gained C/T snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs201037487
rs201037487
7 0.925 0.120 19 38407003 stop gained C/G;T snv 4.0E-06; 1.4E-04; 4.0E-06 4.9E-05 0.700 0
dbSNP: rs201948500
rs201948500
4 0.882 0.120 2 43794485 missense variant C/G snv 2.4E-05 4.9E-05 0.700 0
dbSNP: rs374356079
rs374356079
4 0.882 0.120 2 43805247 splice donor variant G/A snv 2.0E-05 7.0E-06 0.700 0
dbSNP: rs749974697
rs749974697
5 0.851 0.240 7 33152851 stop gained C/A;T snv 4.0E-06; 1.6E-05 0.700 0
dbSNP: rs751375244
rs751375244
6 0.827 0.280 1 36139776 missense variant G/A snv 1.2E-05 3.5E-05 0.700 0
dbSNP: rs753317536
rs753317536
EVC
12 0.790 0.160 4 5719239 intron variant G/A;C snv 8.0E-06; 4.0E-06 0.700 0
dbSNP: rs754279998
rs754279998
10 0.776 0.360 17 58208153 inframe deletion GAG/- delins 2.0E-05 1.4E-05 0.700 0
dbSNP: rs758522600
rs758522600
7 0.851 0.240 12 76347023 frameshift variant CTAA/- delins 4.0E-06 2.8E-05 0.700 0
dbSNP: rs769975073
rs769975073
4 0.882 0.120 2 43794508 stop gained G/A snv 6.0E-05 7.0E-06 0.700 0
dbSNP: rs775081992
rs775081992
5 0.851 0.240 7 33152811 stop gained C/T snv 2.0E-05 0.700 0
dbSNP: rs786205508
rs786205508
5 0.851 0.200 17 58208542 stop gained G/A snv 0.700 0
dbSNP: rs879255280
rs879255280
SMO
22 0.701 0.200 7 129206557 missense variant C/T snv 0.700 0
dbSNP: rs879255655
rs879255655
4 0.882 0.120 2 43809711 stop gained G/T snv 0.700 0