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: rs11554495
rs11554495
19 0.701 0.240 12 52904798 missense variant C/A snv 4.9E-03 5.4E-03 0.020 1.000 2 2003 2006
dbSNP: rs571462252
rs571462252
2 0.925 0.080 12 52904720 missense variant G/A snv 0.010 1.000 1 2005 2005
dbSNP: rs57749775
rs57749775
6 0.851 0.080 12 52904822 missense variant A/G;T snv 1.7E-03; 4.0E-06 0.010 1.000 1 2003 2003