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: rs1077858
rs1077858
1 11 75190556 intron variant G/A snv 0.61 0.010 1.000 1 2017 2017
dbSNP: rs1789693
rs1789693
2 11 75176120 intron variant T/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs10519613
rs10519613
3 1.000 0.080 4 141732931 3 prime UTR variant C/A snv 0.10 0.010 1.000 1 2016 2016
dbSNP: rs2838958
rs2838958
3 1.000 0.080 21 45528653 intron variant G/A snv 0.45 0.010 1.000 1 2017 2017
dbSNP: rs17069665
rs17069665
4 0.882 0.120 6 108620265 intron variant A/C;G snv 0.010 1.000 1 2020 2020
dbSNP: rs9400241
rs9400241
4 0.882 0.120 6 108682786 3 prime UTR variant C/A;G snv 0.010 1.000 1 2020 2020
dbSNP: rs1057519743
rs1057519743
6 0.827 0.120 Y 1196852 missense variant A/C snv 0.010 1.000 1 2012 2012
dbSNP: rs12422149
rs12422149
7 0.827 0.120 11 75172532 missense variant G/A;T snv 0.18 0.010 1.000 1 2017 2017
dbSNP: rs377577594
rs377577594
7 0.827 0.240 2 25234374 missense variant G/A;C;T snv 1.2E-04; 8.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs201478192
rs201478192
12 0.790 0.200 2 8731667 missense variant C/A snv 2.4E-04 2.6E-04 0.010 1.000 1 2009 2009
dbSNP: rs1057520009
rs1057520009
14 0.790 0.200 2 61492337 missense variant C/T snv 4.4E-06 0.020 1.000 2 2016 2017
dbSNP: rs147001633
rs147001633
15 0.776 0.240 2 25234373 missense variant C/A;G;T snv 4.0E-06; 4.0E-06; 2.2E-04 0.030 1.000 3 2015 2019
dbSNP: rs1051266
rs1051266
41 0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06 0.010 1.000 1 2016 2016
dbSNP: rs4149056
rs4149056
45 0.633 0.480 12 21178615 missense variant T/C snv 0.13 0.12 0.010 1.000 1 2017 2017
dbSNP: rs121913530
rs121913530
63 0.583 0.640 12 25245351 missense variant C/A;G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs104894229
rs104894229
73 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs387907272
rs387907272
73 0.572 0.520 3 38141150 stop lost T/C snv 5.2E-05 7.0E-06 0.010 < 0.001 1 2018 2018
dbSNP: rs1544410
rs1544410
VDR
78 0.542 0.760 12 47846052 intron variant C/A;G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs121913500
rs121913500
96 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs2032582
rs2032582
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.010 1.000 1 2008 2008
dbSNP: rs77375493
rs77375493
187 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.080 1.000 8 2007 2016
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2013 2013
dbSNP: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2013 2013