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: rs72547544
rs72547544
2 0.925 0.080 16 75479500 missense variant T/C snv 4.0E-06 1.4E-05 0.010 1.000 1 2014 2014
dbSNP: rs763075517
rs763075517
3 0.882 0.080 16 75479311 missense variant A/G snv 1.6E-05 7.0E-06 0.010 1.000 1 2007 2007