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: rs11547328
rs11547328
27 0.701 0.360 12 57751648 missense variant G/A;T snv 4.0E-06 0.800 1.000 5 1995 2013
dbSNP: rs104894340
rs104894340
5 0.827 0.200 12 57751647 missense variant C/A;T snv 0.800 1.000 4 1995 1998
dbSNP: rs144890720
rs144890720
1 1.000 12 57751596 missense variant T/C snv 1.1E-04 1.3E-04 0.700 1.000 4 1995 1998