Source: ALL
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: rs7927894
rs7927894
12 0.742 0.320 11 76590272 upstream gene variant C/T snv 0.35 0.050 0.800 5 2010 2017
dbSNP: rs1837253
rs1837253
10 0.790 0.240 5 111066174 upstream gene variant T/C snv 0.72 0.020 1.000 2 2015 2017
dbSNP: rs10131567
rs10131567
1 1.000 0.040 14 35395672 intergenic variant G/T snv 0.22 0.700 1.000 1 2019 2019
dbSNP: rs10244416
rs10244416
1 1.000 0.040 7 20536128 intergenic variant C/A;T snv 0.52 0.700 1.000 1 2019 2019
dbSNP: rs10468514
rs10468514
1 1.000 0.040 17 45378874 intergenic variant A/G snv 0.38 0.700 1.000 1 2019 2019
dbSNP: rs10489854
rs10489854
1 1.000 0.040 1 159279069 non coding transcript exon variant C/T snv 8.3E-02 0.010 1.000 1 2010 2010
dbSNP: rs111267073
rs111267073
1 1.000 0.040 5 111030094 intergenic variant C/T snv 1.9E-02 0.700 1.000 1 2019 2019
dbSNP: rs112111458
rs112111458
2 0.925 0.120 2 70872975 intergenic variant A/G snv 0.16 0.010 1.000 1 2017 2017
dbSNP: rs11213941
rs11213941
1 1.000 0.040 11 111563369 downstream gene variant T/C snv 0.35 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: rs11242709
rs11242709
2 1.000 0.040 6 209159 upstream gene variant C/T snv 0.19 0.700 1.000 1 2019 2019
dbSNP: rs11255753
rs11255753
2 1.000 0.040 10 8563590 intergenic variant G/C;T snv 0.23 0.700 1.000 1 2019 2019
dbSNP: rs114997373
rs114997373
1 1.000 0.040 1 45535906 downstream gene variant G/A snv 1.2E-02 0.700 1.000 1 2019 2019
dbSNP: rs118013485
rs118013485
1 1.000 0.040 19 33235671 TF binding site variant G/A snv 5.0E-02 0.700 1.000 1 2019 2019
dbSNP: rs12282231
rs12282231
1 1.000 0.040 11 2274398 upstream gene variant C/T snv 9.0E-02 0.700 1.000 1 2019 2019
dbSNP: rs12365699
rs12365699
5 0.882 0.120 11 118872577 regulatory region variant G/A snv 0.12 0.700 1.000 1 2019 2019
dbSNP: rs12440045
rs12440045
6 0.925 0.080 15 41490486 upstream gene variant A/C snv 0.67 0.700 1.000 1 2019 2019
dbSNP: rs12634229
rs12634229
3 0.882 0.120 3 112657461 intergenic variant T/C snv 0.15 0.010 1.000 1 2016 2016
dbSNP: rs12760882
rs12760882
1 1.000 0.040 1 9285727 intergenic variant T/A snv 0.32 0.700 1.000 1 2019 2019
dbSNP: rs12886625
rs12886625
1 1.000 0.040 14 102772597 intron variant C/G snv 0.38 0.700 1.000 1 2019 2019
dbSNP: rs13169267
rs13169267
1 1.000 0.040 5 35573544 intergenic variant G/A snv 1.2E-02 0.700 1.000 1 2019 2019
dbSNP: rs13185930
rs13185930
1 1.000 0.040 5 138241824 intergenic variant G/A snv 0.22 0.700 1.000 1 2019 2019
dbSNP: rs13277355
rs13277355
3 0.882 0.120 8 127765473 intergenic variant A/G snv 0.71 0.700 1.000 1 2019 2019
dbSNP: rs13323006
rs13323006
1 1.000 0.040 3 112904703 regulatory region variant A/G snv 0.31 0.700 1.000 1 2019 2019
dbSNP: rs1342326
rs1342326
9 0.790 0.360 9 6190076 intergenic variant A/C snv 0.21 0.700 1.000 1 2019 2019