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: rs2280090
rs2280090
4 0.882 0.120 20 3669558 missense variant G/A snv 0.13 0.14 0.010 1.000 1 2016 2016
dbSNP: rs3918396
rs3918396
5 0.851 0.120 20 3671118 missense variant C/T snv 5.1E-05; 7.6E-02 6.7E-02 0.010 1.000 1 2016 2016