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: rs9391997
rs9391997
4 0.851 0.160 6 409119 3 prime UTR variant A/G snv 0.38 0.700 1.000 2 2019 2019
dbSNP: rs10044254
rs10044254
2 0.925 0.080 5 15783487 intron variant A/G snv 0.25 0.010 1.000 1 2014 2014
dbSNP: rs10774625
rs10774625
13 0.763 0.320 12 111472415 intron variant A/G snv 0.66 0.700 1.000 1 2019 2019
dbSNP: rs114444221
rs114444221
2 0.925 0.080 6 31335547 intron variant A/G snv 0.18 0.700 1.000 1 2019 2019
dbSNP: rs12551256
rs12551256
2 0.925 0.080 9 6231239 intron variant A/G snv 0.40 0.700 1.000 1 2018 2018
dbSNP: rs1295685
rs1295685
7 0.790 0.160 5 132660753 3 prime UTR variant A/G snv 0.81 0.700 1.000 1 2018 2018
dbSNP: rs1617333
rs1617333
2 0.925 0.080 1 167467033 intron variant A/G snv 0.27 0.700 1.000 1 2019 2019
dbSNP: rs17144046
rs17144046
4 0.882 0.120 10 8564051 intergenic variant A/G snv 0.28 0.700 1.000 1 2019 2019
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: rs17622378
rs17622378
8 0.790 0.200 5 132442760 intron variant A/G snv 0.28 0.700 1.000 1 2019 2019
dbSNP: rs1801275
rs1801275
58 0.581 0.680 16 27363079 missense variant A/G snv 0.25 0.36 0.010 1.000 1 2016 2016
dbSNP: rs20541
rs20541
52 0.585 0.720 5 132660272 missense variant A/G snv 0.72 0.77 0.010 1.000 1 2016 2016
dbSNP: rs2234678
rs2234678
2 0.925 0.080 2 113117988 5 prime UTR variant A/G snv 0.25 0.21 0.010 1.000 1 2007 2007
dbSNP: rs2280091
rs2280091
3 0.882 0.080 20 3669587 missense variant A/G snv 0.13 0.14 0.010 1.000 1 2017 2017
dbSNP: rs2569190
rs2569190
39 0.620 0.560 5 140633331 intron variant A/G snv 0.57 0.010 1.000 1 2010 2010
dbSNP: rs449454
rs449454
3 0.925 0.080 5 142153497 3 prime UTR variant A/G snv 0.65 0.68 0.700 1.000 1 2019 2019
dbSNP: rs4679858
rs4679858
1 1.000 0.080 3 159428036 intron variant A/G snv 0.16 0.700 1.000 1 2018 2018
dbSNP: rs5498
rs5498
99 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 0.010 1.000 1 2014 2014
dbSNP: rs55661102
rs55661102
LPP
2 0.925 0.080 3 188683350 intron variant A/G snv 0.13 0.700 1.000 1 2019 2019
dbSNP: rs7209742
rs7209742
1 1.000 0.080 17 39952455 upstream gene variant A/G snv 0.69 0.700 1.000 1 2007 2007
dbSNP: rs7218742
rs7218742
1 1.000 0.080 17 39958108 intron variant A/G snv 0.70 0.700 1.000 1 2007 2007
dbSNP: rs731236
rs731236
VDR
81 0.542 0.760 12 47844974 synonymous variant A/G snv 0.33 0.34 0.010 1.000 1 2017 2017
dbSNP: rs7518129
rs7518129
3 0.882 0.120 1 173194429 intron variant A/G snv 0.47 0.700 1.000 1 2019 2019
dbSNP: rs7625643
rs7625643
3 0.925 0.080 3 141431184 intron variant A/G snv 0.51 0.700 1.000 1 2019 2019
dbSNP: rs7734635
rs7734635
3 0.925 0.080 5 110823145 intergenic variant A/G snv 0.30 0.700 1.000 1 2019 2019