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: rs138726443
rs138726443
7 0.790 0.200 1 152307547 stop gained G/A;C;T snv 2.8E-03; 4.0E-06; 1.6E-05 0.040 1.000 4 2009 2020
dbSNP: rs1544410
rs1544410
VDR
78 0.542 0.760 12 47846052 intron variant C/A;G;T snv 0.020 1.000 2 2016 2020
dbSNP: rs731236
rs731236
VDR
81 0.542 0.760 12 47844974 synonymous variant A/G snv 0.33 0.34 0.020 1.000 2 2013 2020
dbSNP: rs2899642
rs2899642
2 0.925 0.120 15 59030849 missense variant C/G;T snv 0.36; 1.2E-05 0.010 1.000 1 2020 2020
dbSNP: rs61816761
rs61816761
43 0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06 0.900 1.000 15 2006 2019
dbSNP: rs5743708
rs5743708
98 0.525 0.800 4 153705165 missense variant G/A snv 1.7E-02 1.8E-02 0.060 0.833 6 2008 2019
dbSNP: rs2066853
rs2066853
AHR
34 0.653 0.600 7 17339486 missense variant G/A snv 0.15 0.22 0.020 1.000 2 2018 2019
dbSNP: rs2228145
rs2228145
57 0.602 0.720 1 154454494 missense variant A/C;T snv 0.38; 1.2E-05 0.710 1.000 2 2013 2019
dbSNP: rs4986790
rs4986790
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.020 1.000 2 2017 2019
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: rs10245867
rs10245867
2 0.925 0.080 7 28102567 intron variant G/T snv 0.37 0.700 1.000 1 2019 2019
dbSNP: rs10249788
rs10249788
6 0.827 0.160 7 17298523 intron variant C/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1025549
rs1025549
1 1.000 0.040 2 198016459 intron variant G/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs1032841
rs1032841
1 1.000 0.040 2 8526108 intron variant A/G;T snv 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: rs10519068
rs10519068
2 0.925 0.120 15 60776505 intron variant G/A snv 0.22 0.700 1.000 1 2019 2019
dbSNP: rs10756796
rs10756796
1 1.000 0.040 9 16730976 intron variant A/G snv 0.43 0.700 1.000 1 2019 2019
dbSNP: rs10791824
rs10791824
3 0.882 0.160 11 65791795 intron variant A/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs10822037
rs10822037
1 1.000 0.040 10 62616798 intron variant T/C snv 0.71 0.700 1.000 1 2019 2019
dbSNP: rs10910095
rs10910095
2 1.000 0.040 1 2579316 upstream gene variant G/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs10937319
rs10937319
1 1.000 0.040 3 187711669 intron variant T/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs10947428
rs10947428
2 1.000 0.040 6 33679281 intron variant T/C snv 0.26 0.700 1.000 1 2019 2019
dbSNP: rs10991797
rs10991797
1 1.000 0.040 9 91168389 intron variant A/G snv 0.71 0.700 1.000 1 2019 2019
dbSNP: rs10993994
rs10993994
15 0.763 0.280 10 46046326 5 prime UTR variant A/G snv 0.54 0.700 1.000 1 2019 2019