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: rs62341639
rs62341639
2 0.925 0.080 4 184238281 intergenic variant C/T snv 0.20 0.010 1.000 1 2017 2017
dbSNP: rs62341657
rs62341657
1 1.000 0.080 4 184238385 intergenic variant G/A snv 0.18 0.010 1.000 1 2017 2017
dbSNP: rs9617814
rs9617814
1 1.000 0.080 22 19622420 regulatory region variant A/G snv 0.22 0.010 1.000 1 2017 2017
dbSNP: rs1800777
rs1800777
17 0.724 0.280 16 56983407 missense variant G/A snv 3.7E-02 2.8E-02 0.010 1.000 1 2018 2018
dbSNP: rs2233406
rs2233406
12 0.732 0.440 14 35405593 upstream gene variant G/A snv 0.26 0.010 1.000 1 2018 2018
dbSNP: rs696
rs696
22 0.708 0.520 14 35401887 3 prime UTR variant C/T snv 0.45 0.010 1.000 1 2018 2018
dbSNP: rs1800896
rs1800896
113 0.507 0.800 1 206773552 intron variant T/C snv 0.41 0.010 < 0.001 1 2019 2019