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: rs193922152
rs193922152
1 1.000 0.120 17 50189208 missense variant T/C snv 0.700 0
dbSNP: rs193922154
rs193922154
1 1.000 0.120 17 50199589 splice acceptor variant CT/- delins 0.700 0
dbSNP: rs193922155
rs193922155
1 1.000 0.120 17 50199329 splice acceptor variant T/C snv 0.700 0
dbSNP: rs193922157
rs193922157
1 1.000 0.120 17 50198459 stop gained C/A;T snv 8.0E-06 0.700 0
dbSNP: rs193922158
rs193922158
2 0.925 0.120 17 50197065 splice acceptor variant T/C snv 0.700 0
dbSNP: rs193922159
rs193922159
1 1.000 0.120 7 94410478 missense variant C/A;G snv 5.1E-05 0.700 0
dbSNP: rs193922162
rs193922162
1 1.000 0.120 7 94417733 missense variant G/A snv 0.700 0
dbSNP: rs193922165
rs193922165
1 1.000 0.120 7 94425655 missense variant G/A snv 0.700 0
dbSNP: rs193922166
rs193922166
1 1.000 0.120 7 94427004 splice acceptor variant A/- delins 0.700 0
dbSNP: rs193922167
rs193922167
1 1.000 0.120 7 94427639 frameshift variant C/- delins 0.700 0
dbSNP: rs193922168
rs193922168
1 1.000 0.120 7 94427714 missense variant G/C snv 0.700 0
dbSNP: rs193922173
rs193922173
1 1.000 0.120 7 94408220 missense variant G/A snv 0.700 0
dbSNP: rs193922175
rs193922175
1 1.000 0.120 7 94409374 inframe deletion GTG/- delins 0.700 0
dbSNP: rs72645323
rs72645323
2 0.925 0.120 17 50197027 missense variant C/T snv 0.700 0
dbSNP: rs72645328
rs72645328
3 0.882 0.120 17 50196670 missense variant C/G;T snv 0.700 0
dbSNP: rs72645357
rs72645357
8 0.776 0.240 17 50196163 missense variant C/T snv 0.700 0
dbSNP: rs72648320
rs72648320
1 1.000 0.120 17 50195433 splice donor variant C/T snv 0.700 0
dbSNP: rs72651620
rs72651620
2 0.925 0.120 17 50192807 frameshift variant GGGG/-;GGG delins 0.700 0
dbSNP: rs72651647
rs72651647
2 0.925 0.120 17 50191454 missense variant C/T snv 0.700 0
dbSNP: rs72653173
rs72653173
2 0.925 0.120 17 50188765 stop gained G/A;C snv 4.0E-06 0.700 0
dbSNP: rs72656314
rs72656314
2 0.925 0.120 17 50187486 stop gained G/A;T snv 0.700 0
dbSNP: rs72656387
rs72656387
3 0.882 0.120 7 94409367 missense variant G/A snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs72658154
rs72658154
1 1.000 0.120 7 94418518 missense variant G/A;T snv 0.700 0
dbSNP: rs72658193
rs72658193
2 0.925 0.120 7 94423056 missense variant G/A snv 0.700 0
dbSNP: rs72659305
rs72659305
2 0.925 0.120 7 94425127 missense variant G/A snv 0.700 0