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: rs35605815
rs35605815
2 0.925 0.040 1 55052407 frameshift variant -/T ins 0.010 1.000 1 2007 2007
dbSNP: rs14259
rs14259
19 0.724 0.360 12 121915890 missense variant A/C;G snv 4.0E-06; 0.32 0.010 1.000 1 2011 2011
dbSNP: rs4880
rs4880
131 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 0.030 1.000 3 2010 2017
dbSNP: rs1004467
rs1004467
13 0.790 0.280 10 102834750 non coding transcript exon variant A/G snv 0.15 0.14 0.010 1.000 1 2019 2019
dbSNP: rs1137101
rs1137101
77 0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 0.010 1.000 1 2015 2015
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs12252
rs12252
23 0.695 0.240 11 320772 splice region variant A/G snv 0.13 0.13 0.010 1.000 1 2017 2017
dbSNP: rs12449157
rs12449157
4 1.000 0.040 16 67674994 3 prime UTR variant A/G snv 0.30 0.010 1.000 1 2013 2013
dbSNP: rs16944
rs16944
92 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 0.010 1.000 1 2017 2017
dbSNP: rs17321515
rs17321515
16 0.776 0.200 8 125474167 intron variant A/G snv 0.49 0.010 1.000 1 2009 2009
dbSNP: rs1801260
rs1801260
28 0.695 0.280 4 55435202 3 prime UTR variant A/G snv 0.25 0.010 1.000 1 2019 2019
dbSNP: rs1984112
rs1984112
8 0.807 0.280 7 80613604 intron variant A/G snv 0.33 0.010 1.000 1 2013 2013
dbSNP: rs4148211
rs4148211
3 0.882 0.080 2 43844604 missense variant A/G snv 0.43 0.35 0.010 1.000 1 2008 2008
dbSNP: rs41494349
rs41494349
4 0.882 0.080 11 68348021 missense variant A/G snv 1.9E-02 8.2E-03 0.010 1.000 1 2006 2006
dbSNP: rs4823613
rs4823613
1 1.000 0.040 22 46202410 intron variant A/G snv 0.30 0.010 1.000 1 2013 2013
dbSNP: rs4994
rs4994
65 0.578 0.640 8 37966280 missense variant A/G snv 0.11 9.2E-02 0.010 1.000 1 2005 2005
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.010 1.000 1 2008 2008
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 2018 2018
dbSNP: rs776478288
rs776478288
2 0.925 0.080 6 46716518 missense variant A/G snv 0.010 1.000 1 2004 2004
dbSNP: rs879254894
rs879254894
1 1.000 0.040 19 11113593 missense variant A/G snv 0.010 < 0.001 1 2015 2015
dbSNP: rs879254906
rs879254906
3 0.882 0.080 19 11113630 missense variant A/G snv 0.010 1.000 1 2005 2005
dbSNP: rs11932595
rs11932595
12 0.827 0.160 4 55457430 intron variant A/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs3824260
rs3824260
11 0.742 0.160 8 58500631 upstream gene variant A/G;T snv 0.010 1.000 1 2020 2020
dbSNP: rs4393158
rs4393158
2 1.000 0.040 1 209678552 intron variant A/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs4673
rs4673
32 0.653 0.600 16 88646828 missense variant A/G;T snv 0.70 0.010 1.000 1 2004 2004