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: rs17454584
rs17454584
6 0.851 0.080 4 122432277 downstream gene variant A/G snv 0.17 0.700 1.000 1 2019 2019
dbSNP: rs2390314
rs2390314
3 0.925 0.120 7 20416355 downstream gene variant A/C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs10506346
rs10506346
1 12 56937074 upstream gene variant G/A snv 0.12 0.700 1.000 1 2019 2019
dbSNP: rs1420466
rs1420466
1 3 169000309 upstream gene variant T/A;G snv 0.700 1.000 1 2019 2019
dbSNP: rs1837253
rs1837253
10 0.790 0.240 5 111066174 upstream gene variant T/C snv 0.72 0.700 1.000 1 2019 2019
dbSNP: rs2497318
rs2497318
6 0.827 0.120 10 92672243 upstream gene variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs479844
rs479844
6 0.851 0.160 11 65784486 upstream gene variant A/G snv 0.44 0.700 1.000 1 2019 2019
dbSNP: rs7091181
rs7091181
1 10 8471661 upstream gene variant G/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs76848919
rs76848919
1 17 78356473 upstream gene variant G/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs34712979
rs34712979
5 1.000 0.040 4 105897896 splice region variant G/A;T snv 0.17 0.700 1.000 1 2019 2019
dbSNP: rs112401631
rs112401631
8 0.882 0.120 17 40608272 TF binding site variant T/A snv 1.1E-02 0.700 1.000 1 2019 2019
dbSNP: rs117710327
rs117710327
5 0.882 0.080 19 33235672 TF binding site variant C/A snv 5.0E-02 0.700 1.000 1 2019 2019
dbSNP: rs8020739
rs8020739
2 14 35413286 TF binding site variant G/T snv 0.67 0.700 1.000 1 2019 2019
dbSNP: rs10975277
rs10975277
1 9 5774661 3 prime UTR variant G/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs41283642
rs41283642
1 9 99153605 3 prime UTR variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs117552144
rs117552144
1 19 3136093 5 prime UTR variant C/T snv 3.8E-02 0.700 1.000 1 2019 2019
dbSNP: rs12889006
rs12889006
1 14 68793846 5 prime UTR variant G/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs3813308
rs3813308
2 1.000 0.080 5 119355086 5 prime UTR variant C/G snv 0.37 0.700 1.000 1 2019 2019
dbSNP: rs1684466
rs1684466
2 1.000 0.080 3 196632439 non coding transcript exon variant G/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs1689510
rs1689510
16 0.724 0.240 12 56002984 non coding transcript exon variant G/C snv 0.25 0.700 1.000 1 2019 2019
dbSNP: rs3744787
rs3744787
1 17 78897589 non coding transcript exon variant A/G snv 0.28 0.700 1.000 1 2019 2019
dbSNP: rs3749833
rs3749833
4 0.925 0.080 5 132463934 non coding transcript exon variant T/C snv 0.23 0.700 1.000 1 2019 2019
dbSNP: rs891058
rs891058
3 1.000 0.040 2 8302417 non coding transcript exon variant G/A snv 0.23 0.700 1.000 1 2019 2019
dbSNP: rs9303279
rs9303279
1 17 39917715 non coding transcript exon variant G/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs16903574
rs16903574
6 0.882 0.120 5 14610200 missense variant C/A;G snv 4.0E-06; 5.6E-02 0.700 1.000 1 2019 2019