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: rs1991517
rs1991517
13 0.752 0.240 14 81144239 missense variant G/C snv 0.90 0.91 0.020 1.000 2 2013 2016
dbSNP: rs537209983
rs537209983
3 0.882 0.080 14 36517378 missense variant G/A snv 1.7E-04 8.4E-05 0.020 1.000 2 2009 2015
dbSNP: rs1284307491
rs1284307491
1 1.000 0.080 9 97854332 missense variant G/C snv 4.2E-06 0.010 1.000 1 2015 2015
dbSNP: rs2234919
rs2234919
2 0.925 0.160 14 80955834 missense variant C/A;G snv 6.8E-02; 1.2E-05 0.010 1.000 1 2013 2013
dbSNP: rs57920071
rs57920071
11 0.763 0.320 1 156136984 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs886037704
rs886037704
3 0.925 0.080 14 95103856 stop gained G/T snv 0.010 1.000 1 2015 2015