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: rs61326242
rs61326242
1 1.000 0.080 17 41586407 missense variant A/G snv 1.6E-05 0.700 1.000 8 1991 2006
dbSNP: rs147611635
rs147611635
1 1.000 0.080 17 41584282 missense variant G/T snv 1.2E-04 4.2E-04 0.700 0
dbSNP: rs59780231
rs59780231
2 0.925 0.080 17 41583272 missense variant C/G;T snv 2.1E-02 0.700 0