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: rs1373464667
rs1373464667
2 0.925 0.120 9 137232889 missense variant C/G;T snv 4.5E-05 0.010 1.000 1 2008 2008
dbSNP: rs199690076
rs199690076
3 0.882 0.240 9 137233223 missense variant C/G;T snv 4.4E-04 0.010 1.000 1 2019 2019