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: rs2288377
rs2288377
2 0.925 0.080 12 102480984 intron variant A/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs5742612
rs5742612
11 0.752 0.440 12 102481086 intron variant A/G snv 5.6E-02 0.010 1.000 1 2017 2017
dbSNP: rs776234219
rs776234219
1 1.000 0.040 12 102419531 missense variant G/A snv 1.6E-05 3.5E-05 0.010 1.000 1 2013 2013