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: rs11554290
rs11554290
59 0.583 0.600 1 114713908 missense variant T/A;C;G snv 0.010 1.000 1 2014 2014
dbSNP: rs121913233
rs121913233
37 0.627 0.520 11 533874 missense variant T/A;C;G snv 0.010 1.000 1 2014 2014
dbSNP: rs121913240
rs121913240
24 0.672 0.440 12 25227342 missense variant T/A;C;G snv 0.010 1.000 1 2014 2014
dbSNP: rs1480286871
rs1480286871
1 1.000 0.040 4 1799326 missense variant G/A snv 0.010 1.000 1 2014 2014