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: rs863223953
rs863223953
10 0.776 0.240 12 32731362 missense variant C/T snv 0.700 1.000 2 2016 2016
dbSNP: rs1060505041
rs1060505041
34 0.716 0.400 19 13136099 missense variant C/A;T snv 0.700 0
dbSNP: rs1553920379
rs1553920379
27 0.776 0.160 4 101032294 frameshift variant -/AGTA delins 0.700 0
dbSNP: rs374259530
rs374259530
5 0.925 0.200 22 40350018 missense variant T/C snv 3.6E-05 9.1E-05 0.700 0
dbSNP: rs387907260
rs387907260
22 0.776 0.280 7 66633410 missense variant C/T snv 4.0E-06 1.4E-05 0.700 0
dbSNP: rs727502818
rs727502818
26 0.790 0.160 11 17772053 missense variant G/A snv 0.700 0
dbSNP: rs756210458
rs756210458
5 0.925 0.200 22 40354266 missense variant C/G;T snv 4.0E-06; 1.2E-05 0.700 0
dbSNP: rs796052686
rs796052686
22 0.776 0.280 7 66638394 missense variant G/A snv 1.2E-05 0.700 0