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: rs57422427
rs57422427
2 0.925 0.080 12 52898859 missense variant C/T snv 3.5E-02 2.3E-02 0.020 1.000 2 2010 2015
dbSNP: rs11554495
rs11554495
19 0.701 0.240 12 52904798 missense variant C/A snv 4.9E-03 5.4E-03 0.010 1.000 1 2015 2015
dbSNP: rs58573614
rs58573614
1 1.000 0.040 12 52897580 missense variant C/T snv 4.3E-03 1.8E-02 0.010 1.000 1 2010 2010
dbSNP: rs62636489
rs62636489
3 0.925 0.040 12 52898860 missense variant G/A snv 7.6E-05 7.0E-06 0.010 1.000 1 2015 2015