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: rs2227983
rs2227983
31 0.658 0.520 7 55161562 missense variant G/A;C;T snv 0.29 0.010 1.000 1 2005 2005
dbSNP: rs750713244
rs750713244
4 0.925 0.200 7 55157753 missense variant A/G snv 8.0E-06 0.010 1.000 1 2015 2015