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: rs1544410
rs1544410
VDR
78 0.542 0.760 12 47846052 intron variant C/A;G;T snv 0.020 1.000 2 2020 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: rs408223
rs408223
2 1.000 0.080 7 106021578 intron variant C/G snv 0.27 0.010 1.000 1 2020 2020
dbSNP: rs12365699
rs12365699
5 0.882 0.120 11 118872577 regulatory region variant G/A snv 0.12 0.700 1.000 3 2019 2019
dbSNP: rs12964116
rs12964116
2 0.925 0.080 18 63775385 5 prime UTR variant A/G snv 3.0E-02 0.700 1.000 3 2019 2019
dbSNP: rs3122929
rs3122929
4 0.882 0.080 12 57115319 intron variant C/T snv 0.33 0.700 1.000 3 2019 2019
dbSNP: rs72743461
rs72743461
6 0.827 0.160 15 67149412 intron variant C/A;T snv 0.700 1.000 3 2019 2019
dbSNP: rs7936312
rs7936312
5 0.882 0.080 11 76582682 intergenic variant G/T snv 0.44 0.700 1.000 3 2019 2019
dbSNP: rs10187276
rs10187276
2 0.925 0.080 2 227805721 upstream gene variant T/C snv 0.62 0.700 1.000 2 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 2 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 2 2019 2019
dbSNP: rs12123821
rs12123821
4 0.925 0.080 1 152206676 intron variant C/T snv 2.9E-02 0.700 1.000 2 2019 2019
dbSNP: rs12722502
rs12722502
4 0.882 0.080 10 6051176 intron variant C/T snv 7.8E-03 0.700 1.000 2 2019 2019
dbSNP: rs13277355
rs13277355
3 0.882 0.120 8 127765473 intergenic variant A/G snv 0.71 0.700 1.000 2 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 2 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 2 2019 2019
dbSNP: rs2070901
rs2070901
4 0.882 0.120 1 161215268 non coding transcript exon variant G/T snv 0.32 0.700 1.000 2 2019 2019
dbSNP: rs301819
rs301819
4 0.882 0.120 1 8441726 intron variant A/G;T snv 0.700 1.000 2 2019 2019
dbSNP: rs35441874
rs35441874
3 0.882 0.120 16 11119164 intron variant T/A snv 0.19 0.700 1.000 2 2019 2019
dbSNP: rs35570272
rs35570272
2 0.925 0.080 3 33006170 intron variant G/T snv 0.36 0.700 1.000 2 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 2 2019 2019
dbSNP: rs45613035
rs45613035
2 0.925 0.120 4 122219915 intron variant T/C snv 6.5E-02 0.700 1.000 2 2019 2019
dbSNP: rs4574025
rs4574025
4 0.882 0.160 18 62342581 intron variant C/T snv 0.55 0.700 1.000 2 2019 2019
dbSNP: rs4795399
rs4795399
2 0.925 0.080 17 39905186 intron variant T/C snv 0.35 0.700 1.000 2 2019 2019
dbSNP: rs479844
rs479844
6 0.851 0.160 11 65784486 upstream gene variant A/G snv 0.44 0.700 1.000 2 2019 2019