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: rs10969913
rs10969913
3 1.000 0.080 9 30866810 intergenic variant A/G snv 6.3E-02 0.700 1.000 1 2020 2020
dbSNP: rs11122573
rs11122573
3 1.000 0.080 1 230701434 upstream gene variant C/T snv 8.0E-02 0.700 1.000 1 2020 2020
dbSNP: rs112193369
rs112193369
1 1.000 0.080 1 7498191 intron variant -/AGTGTG;AGTGTGTG;AGTGTTGGTG;AGTGTTGGTGTG;AGTGTTGGTGTGTG;GGTG delins 0.700 1.000 1 2020 2020
dbSNP: rs113370662
rs113370662
1 1.000 0.080 4 3535970 upstream gene variant C/T snv 3.0E-02 0.700 1.000 1 2020 2020
dbSNP: rs11624322
rs11624322
1 1.000 0.080 14 36589404 intron variant C/T snv 0.34 0.700 1.000 1 2020 2020
dbSNP: rs11687040
rs11687040
1 1.000 0.080 2 237171408 regulatory region variant G/A snv 1.1E-02 0.700 1.000 1 2020 2020
dbSNP: rs121913500
rs121913500
96 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2020 2020
dbSNP: rs12976445
rs12976445
20 0.689 0.600 19 51693200 non coding transcript exon variant T/C snv 0.45 0.010 1.000 1 2020 2020
dbSNP: rs13403657
rs13403657
1 1.000 0.080 2 241004033 intron variant A/G snv 7.5E-02 0.700 1.000 1 2020 2020
dbSNP: rs13426236
rs13426236
2 0.925 0.080 2 237539297 intron variant A/G snv 0.32 0.010 1.000 1 2020 2020
dbSNP: rs138731641
rs138731641
1 1.000 0.080 9 80614113 intergenic variant A/-;AA delins 2.9E-02 0.700 1.000 1 2020 2020
dbSNP: rs139239158
rs139239158
1 1.000 0.080 3 59918603 intron variant C/G snv 1.4E-02 0.700 1.000 1 2020 2020
dbSNP: rs139288166
rs139288166
1 1.000 0.080 8 755922 intron variant A/C snv 5.9E-03 0.700 1.000 1 2020 2020
dbSNP: rs139882217
rs139882217
1 1.000 0.080 3 54695885 intron variant C/T snv 1.2E-02 0.700 1.000 1 2020 2020
dbSNP: rs141203061
rs141203061
1 1.000 0.080 3 36203204 intergenic variant A/T snv 1.1E-02 0.700 1.000 1 2020 2020
dbSNP: rs144214859
rs144214859
1 1.000 0.080 2 68397478 downstream gene variant G/A snv 1.7E-02 0.700 1.000 1 2020 2020
dbSNP: rs148048756
rs148048756
1 1.000 0.080 8 612963 downstream gene variant A/G snv 7.3E-03 0.700 1.000 1 2020 2020
dbSNP: rs149176864
rs149176864
GSR
1 1.000 0.080 8 30701718 intron variant G/A snv 2.1E-02 0.700 1.000 1 2020 2020
dbSNP: rs149927798
rs149927798
1 1.000 0.080 3 26507456 intergenic variant C/T snv 2.2E-02 0.700 1.000 1 2020 2020
dbSNP: rs17055178
rs17055178
3 1.000 0.080 5 157976402 downstream gene variant A/G snv 7.2E-02 0.700 1.000 1 2020 2020
dbSNP: rs17190422
rs17190422
1 1.000 0.080 2 56629125 intergenic variant A/G snv 2.2E-02 0.700 1.000 1 2020 2020
dbSNP: rs180958289
rs180958289
1 1.000 0.080 19 1543772 intergenic variant G/A snv 5.1E-03 0.700 1.000 1 2020 2020
dbSNP: rs186353960
rs186353960
1 1.000 0.080 4 122999342 intron variant G/A snv 3.7E-02 0.700 1.000 1 2020 2020
dbSNP: rs190601686
rs190601686
1 1.000 0.080 9 83585894 intergenic variant C/T snv 5.1E-03 0.700 1.000 1 2020 2020
dbSNP: rs191705561
rs191705561
1 1.000 0.080 4 183770411 upstream gene variant G/A;T snv 0.700 1.000 1 2020 2020