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: rs104893642
rs104893642
1 1.000 0.080 2 226796916 missense variant G/A;C snv 1.5E-05; 5.0E-06 0.710 1.000 1 2003 2003
dbSNP: rs1801278
rs1801278
36 0.637 0.560 2 226795828 missense variant C/G;T snv 4.0E-06; 5.2E-02 0.100 0.841 44 1994 2019
dbSNP: rs1801276
rs1801276
3 0.882 0.160 2 226797205 missense variant C/G snv 1.4E-02 1.3E-02 0.060 0.833 6 1994 2011
dbSNP: rs10498210
rs10498210
1 1.000 0.080 2 226755230 intron variant G/A snv 9.0E-02 0.010 1.000 1 2019 2019
dbSNP: rs13431554
rs13431554
2 0.925 0.120 2 226732872 3 prime UTR variant A/G snv 0.10 0.010 1.000 1 2016 2016
dbSNP: rs1801118
rs1801118
1 1.000 0.080 2 226798113 missense variant A/G snv 5.6E-05 2.1E-05 0.010 1.000 1 1996 1996
dbSNP: rs1801120
rs1801120
1 1.000 0.080 2 226796313 missense variant G/A snv 4.0E-06 0.010 1.000 1 1996 1996