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: rs12137025
rs12137025
1 1 223684349 regulatory region variant T/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs17830069
rs17830069
1 4 181257153 downstream gene variant A/G snv 5.1E-02 0.700 1.000 1 2016 2016
dbSNP: rs2594495
rs2594495
1 2 46182327 intron variant G/A snv 0.15 0.700 1.000 1 2016 2016