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: rs753950876
rs753950876
1 12 131941508 missense variant C/T snv 8.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs104894556
rs104894556
2 1.000 0.080 17 14159926 missense variant C/G;T snv 1.2E-05 0.010 1.000 1 2019 2019
dbSNP: rs201430951
rs201430951
7 0.925 0.040 14 31599308 missense variant T/C snv 1.5E-04 5.6E-05 0.700 0