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: rs1057519803
rs1057519803
4 0.925 0.080 12 56088138 missense variant G/A snv 0.700 1.000 1 2013 2013
dbSNP: rs1057519891
rs1057519891
6 0.851 0.160 12 56088557 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2015 2015