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: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 1.000 28 2009 2019
dbSNP: rs397517132
rs397517132
48 0.623 0.280 7 55191846 missense variant A/T snv 0.100 1.000 14 2011 2019
dbSNP: rs112445441
rs112445441
32 0.658 0.400 12 25245347 missense variant C/A;G;T snv 0.090 0.889 9 2010 2017
dbSNP: rs909797662
rs909797662
8 0.790 0.120 7 55191837 missense variant G/A snv 0.050 0.800 5 2010 2016
dbSNP: rs121913238
rs121913238
17 0.732 0.240 12 25227343 missense variant G/C;T snv 0.030 1.000 3 2013 2017
dbSNP: rs121913254
rs121913254
31 0.658 0.440 1 114713909 stop gained G/A;C;T snv 0.030 1.000 3 2013 2017
dbSNP: rs1023741
rs1023741
1 1.000 0.080 10 96663139 intron variant T/C snv 0.14 0.700 1.000 1 2019 2019
dbSNP: rs1053004
rs1053004
11 0.776 0.280 17 42314074 3 prime UTR variant G/A snv 0.48 0.010 1.000 1 2018 2018
dbSNP: rs10920654
rs10920654
1 1.000 0.080 1 190162620 intron variant C/T snv 0.22 0.700 1.000 1 2019 2019
dbSNP: rs1145724
rs1145724
1 1.000 0.080 6 90477791 intergenic variant T/C snv 0.27 0.700 1.000 1 2019 2019
dbSNP: rs11574077
rs11574077
VDR
1 1.000 0.080 12 47859144 intron variant T/C snv 3.3E-02 0.010 1.000 1 2018 2018
dbSNP: rs11692570
rs11692570
1 1.000 0.080 2 6637860 non coding transcript exon variant C/T snv 0.16 0.700 1.000 1 2019 2019
dbSNP: rs11918092
rs11918092
2 0.925 0.120 3 134794514 intron variant C/A snv 0.74 0.700 1.000 1 2019 2019
dbSNP: rs12949587
rs12949587
1 1.000 0.080 17 79365094 intron variant C/T snv 0.13 0.700 1.000 1 2019 2019
dbSNP: rs13402783
rs13402783
1 1.000 0.080 2 85787998 3 prime UTR variant A/G snv 8.7E-02 0.700 1.000 1 2019 2019
dbSNP: rs1372330
rs1372330
1 1.000 0.080 9 116757309 intron variant G/A snv 0.13 0.700 1.000 1 2019 2019
dbSNP: rs1426107
rs1426107
1 1.000 0.080 4 14294676 regulatory region variant C/G;T snv 9.1E-02 0.700 1.000 1 2019 2019
dbSNP: rs17053011
rs17053011
1 1.000 0.080 5 155934106 intron variant G/T snv 0.13 0.700 1.000 1 2019 2019
dbSNP: rs17082301
rs17082301
1 1.000 0.080 4 53026989 intron variant G/A snv 0.16 0.700 1.000 1 2019 2019
dbSNP: rs17201864
rs17201864
1 1.000 0.080 15 88877743 3 prime UTR variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs1800734
rs1800734
30 0.653 0.400 3 36993455 5 prime UTR variant G/A snv 0.22 0.010 1.000 1 2018 2018
dbSNP: rs1800795
rs1800795
140 0.494 0.840 7 22727026 intron variant C/G snv 0.71 0.010 1.000 1 2016 2016
dbSNP: rs2069837
rs2069837
18 0.724 0.520 7 22728408 intron variant A/C;G snv 0.010 1.000 1 2016 2016
dbSNP: rs2163746
rs2163746
1 1.000 0.080 5 155918211 intron variant A/G snv 0.14 0.700 1.000 1 2019 2019
dbSNP: rs2327990
rs2327990
1 1.000 0.080 20 16208618 intron variant T/C snv 0.80 0.700 1.000 1 2019 2019