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: rs148601459
rs148601459
2 0.925 0.200 16 57382838 missense variant G/A;T snv 1.4E-05; 4.6E-06 0.010 1.000 1 2014 2014
dbSNP: rs3732378
rs3732378
48 0.620 0.720 3 39265671 missense variant G/A snv 0.14 0.12 0.010 1.000 1 2014 2014
dbSNP: rs3732379
rs3732379
38 0.637 0.680 3 39265765 missense variant C/T snv 0.22 0.22 0.010 1.000 1 2014 2014