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: rs12422149
rs12422149
7 0.827 0.120 11 75172532 missense variant G/A;T snv 0.18 0.010 1.000 1 2013 2013
dbSNP: rs56350726
rs56350726
3 0.882 0.080 9 84285454 missense variant T/A;C snv 7.2E-02; 1.2E-05 0.020 1.000 2 2017 2018
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2012 2012
dbSNP: rs2231142
rs2231142
56 0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12 0.010 1.000 1 2006 2006