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: rs104894340
rs104894340
5 0.827 0.200 12 57751647 missense variant C/A;T snv 0.740 0.600 5 2003 2014
dbSNP: rs11547328
rs11547328
27 0.701 0.360 12 57751648 missense variant G/A;T snv 4.0E-06 0.100 1.000 11 1997 2016
dbSNP: rs143670820
rs143670820
1 1.000 0.040 12 57749249 missense variant G/C;T snv 5.2E-05; 8.0E-06 0.010 1.000 1 2008 2008