Source: ALL
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: rs1042714
rs1042714
54 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 0.100 0.952 21 1995 2019
dbSNP: rs61816761
rs61816761
43 0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06 0.780 1.000 12 2007 2019
dbSNP: rs1800925
rs1800925
37 0.627 0.560 5 132657117 non coding transcript exon variant C/G;T snv 0.090 0.889 9 2007 2018
dbSNP: rs4950928
rs4950928
33 0.653 0.560 1 203186754 upstream gene variant G/A;C;T snv 0.090 0.889 9 2009 2019
dbSNP: rs555743307
rs555743307
20 0.695 0.440 16 27342243 missense variant G/A;T snv 3.6E-05; 2.9E-04 0.090 0.778 9 1999 2015
dbSNP: rs4986790
rs4986790
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.080 0.750 8 2004 2020
dbSNP: rs1295686
rs1295686
7 0.882 0.160 5 132660151 intron variant T/A;C snv 0.68 0.840 1.000 7 2010 2018
dbSNP: rs1799983
rs1799983
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.060 0.667 6 2002 2012
dbSNP: rs320995
rs320995
4 0.851 0.240 X 78272820 missense variant G/A;C;T snv 0.73 0.060 1.000 6 2006 2009
dbSNP: rs37973
rs37973
7 0.807 0.280 7 7968245 intron variant G/A;C snv 0.060 0.667 6 2015 2019
dbSNP: rs528557
rs528557
6 0.827 0.120 20 3671095 synonymous variant C/A;G snv 4.7E-06; 0.29 0.060 1.000 6 2008 2019
dbSNP: rs2228570
rs2228570
VDR
99 0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 0.050 1.000 5 2011 2020
dbSNP: rs2872507
rs2872507
12 0.752 0.360 17 39884510 intergenic variant G/A;T snv 0.720 1.000 5 2010 2012
dbSNP: rs549908
rs549908
10 0.752 0.440 11 112150193 synonymous variant T/A;G snv 4.2E-06; 0.29 0.050 1.000 5 2003 2019
dbSNP: rs7041
rs7041
GC
64 0.576 0.800 4 71752617 missense variant A/C;T snv 0.52; 4.0E-06 0.050 1.000 5 2014 2020
dbSNP: rs8069176
rs8069176
4 0.882 0.080 17 39900944 downstream gene variant G/A;T snv 0.740 1.000 5 2008 2018
dbSNP: rs992969
rs992969
4 0.882 0.080 9 6209697 intergenic variant A/G;T snv 0.810 1.000 5 2010 2019
dbSNP: rs1805011
rs1805011
8 0.776 0.320 16 27362551 missense variant A/C;G;T snv 0.13; 1.2E-04; 3.6E-05 0.040 1.000 4 2010 2016
dbSNP: rs2228145
rs2228145
57 0.602 0.720 1 154454494 missense variant A/C;T snv 0.38; 1.2E-05 0.040 1.000 4 2012 2017
dbSNP: rs3771180
rs3771180
2 1.000 0.080 2 102337157 5 prime UTR variant G/A;T snv 0.820 1.000 4 2011 2019
dbSNP: rs37972
rs37972
5 0.851 0.160 7 7967878 3 prime UTR variant T/A;C snv 0.040 0.750 4 2014 2019
dbSNP: rs4588
rs4588
GC
53 0.597 0.720 4 71752606 missense variant G/A;T snv 1.6E-05; 0.25 0.040 1.000 4 2014 2019
dbSNP: rs4795405
rs4795405
6 0.851 0.160 17 39932164 intron variant T/A;C snv 0.720 1.000 4 2010 2013
dbSNP: rs7212938
rs7212938
2 0.925 0.120 17 39966427 missense variant G/A;C;T snv 4.1E-04; 4.2E-06; 0.52 0.820 0.750 4 2011 2015
dbSNP: rs769790595
rs769790595
5 0.827 0.120 16 27360785 missense variant G/A;C snv 2.0E-05; 4.0E-06 0.040 1.000 4 2006 2010