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: rs879254925
rs879254925
8 0.790 0.120 19 11113680 missense variant G/T snv 0.100 1.000 10 2004 2020
dbSNP: rs28942111
rs28942111
7 0.807 0.120 1 55044016 missense variant T/A snv 0.030 1.000 3 2007 2009
dbSNP: rs1468271
rs1468271
2 1.000 0.040 7 24287362 intron variant C/T snv 0.97 0.020 1.000 2 2008 2009
dbSNP: rs1047731829
rs1047731829
1 1.000 0.040 19 11120186 missense variant T/C snv 0.010 1.000 1 2004 2004
dbSNP: rs11191548
rs11191548
10 0.882 0.080 10 103086421 3 prime UTR variant T/C snv 8.6E-02 0.010 1.000 1 2019 2019
dbSNP: rs11542041
rs11542041
23 0.677 0.480 19 44908690 missense variant C/A;T snv 2.1E-05 0.010 < 0.001 1 1993 1993
dbSNP: rs11932595
rs11932595
12 0.827 0.160 4 55457430 intron variant A/G;T snv 0.010 1.000 1 2019 2019
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: rs1279368649
rs1279368649
1 1.000 0.040 19 11120146 missense variant C/T snv 2.1E-05 0.010 1.000 1 1996 1996
dbSNP: rs1308646934
rs1308646934
1 1.000 0.040 19 11129527 missense variant C/T snv 0.010 1.000 1 1996 1996
dbSNP: rs1544410
rs1544410
VDR
78 0.542 0.760 12 47846052 intron variant C/A;G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs16827671
rs16827671
1 1.000 0.040 1 150766283 upstream gene variant T/C snv 0.35 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: rs17222772
rs17222772
3 0.925 0.120 13 30737959 intron variant A/T snv 0.010 1.000 1 2017 2017
dbSNP: rs17231896
rs17231896
3 0.925 0.120 16 56982180 missense variant G/A;C snv 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: rs1746661
rs1746661
3 0.925 0.080 1 32869438 intron variant G/A;T snv 0.010 1.000 1 2015 2015
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: rs2234693
rs2234693
77 0.555 0.680 6 151842200 intron variant T/C snv 0.47 0.010 1.000 1 2010 2010
dbSNP: rs2235543
rs2235543
4 0.925 0.080 1 209687323 intron variant T/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs236918
rs236918
10 0.776 0.160 11 117220893 non coding transcript exon variant G/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs35605815
rs35605815
2 0.925 0.040 1 55052407 frameshift variant -/T ins 0.010 1.000 1 2007 2007
dbSNP: rs3761740
rs3761740
4 0.882 0.160 5 75336308 intron variant C/A snv 8.2E-02 0.010 1.000 1 2013 2013
dbSNP: rs3798577
rs3798577
16 0.742 0.320 6 152099995 3 prime UTR variant T/C snv 0.45 0.010 1.000 1 2010 2010