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: rs231775
rs231775
115 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.100 0.900 10 2002 2018
dbSNP: rs763361
rs763361
21 0.689 0.520 18 69864406 missense variant T/A;C snv 4.0E-06; 0.52 0.090 1.000 9 2009 2018
dbSNP: rs1801274
rs1801274
46 0.597 0.800 1 161509955 missense variant A/C;G snv 4.0E-06; 0.48 0.040 1.000 4 2009 2019
dbSNP: rs113994136
rs113994136
7 0.827 0.240 17 42329642 missense variant C/A;T snv 0.020 1.000 2 2011 2011
dbSNP: rs121908117
rs121908117
17 0.708 0.440 3 48466707 missense variant G/A snv 0.020 1.000 2 2015 2020
dbSNP: rs2281808
rs2281808
4 0.925 0.160 20 1629905 intron variant T/A;C snv 0.020 1.000 2 2018 2019
dbSNP: rs2488457
rs2488457
11 0.763 0.480 1 113872746 intron variant G/A;C snv 0.020 0.500 2 2012 2013
dbSNP: rs3027898
rs3027898
11 0.752 0.360 X 154010439 downstream gene variant C/A snv 0.020 1.000 2 2015 2019
dbSNP: rs3761548
rs3761548
42 0.620 0.680 X 49261784 intron variant G/A;T snv 0.020 1.000 2 2013 2013
dbSNP: rs4810485
rs4810485
16 0.732 0.480 20 46119308 intron variant T/A;G snv 0.710 1.000 2 2011 2016
dbSNP: rs5844572
rs5844572
11 0.752 0.360 22 23893562 intron variant -/ATTC delins 0.020 1.000 2 2017 2019
dbSNP: rs917997
rs917997
20 0.701 0.480 2 102454108 downstream gene variant T/A;C snv 0.710 1.000 2 2011 2013
dbSNP: rs10444776
rs10444776
4 0.882 14 105647030 upstream gene variant G/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs104895271
rs104895271
6 0.851 0.240 12 6334161 missense variant A/C;G snv 1.6E-04; 4.8E-05 0.010 1.000 1 2013 2013
dbSNP: rs10516487
rs10516487
11 0.752 0.360 4 101829919 missense variant G/A;T snv 0.26; 8.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1053874
rs1053874
7 0.851 0.240 16 3657746 missense variant G/A;T snv 0.36; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1059702
rs1059702
7 0.807 0.280 X 154018741 missense variant A/G snv 0.72 0.010 1.000 1 2015 2015
dbSNP: rs1059703
rs1059703
6 0.851 0.280 X 154013378 missense variant G/A snv 0.67 0.010 1.000 1 2015 2015
dbSNP: rs10735810
rs10735810
VDR
26 0.662 0.640 12 47879112 start lost A/C;G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs10748781
rs10748781
11 0.763 0.160 10 99523573 upstream gene variant C/A;G snv 0.700 1.000 1 2019 2019
dbSNP: rs10932019
rs10932019
2 2 203764087 downstream gene variant G/A;C snv 0.700 1.000 1 2011 2011
dbSNP: rs10988542
rs10988542
14 0.724 0.240 9 129894985 intron variant G/A;C snv 0.700 1.000 1 2015 2015
dbSNP: rs11117433
rs11117433
6 0.827 0.160 16 85985910 upstream gene variant G/A;C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs11145763
rs11145763
14 0.724 0.240 9 136369144 intron variant A/C;G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs11221332
rs11221332
13 0.763 0.280 11 128511079 intron variant C/A;T snv 0.700 1.000 1 2011 2011