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: rs1336795098
rs1336795098
1 9 131127544 synonymous variant A/G snv 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1364498756
rs1364498756
1 14 24166173 missense variant G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs139226823
rs139226823
1 X 71616597 missense variant C/G;T snv 5.5E-06; 5.7E-04 0.010 1.000 1 2018 2018
dbSNP: rs3136558
rs3136558
4 1.000 2 112833698 intron variant A/G snv 0.21 0.010 1.000 1 2015 2015
dbSNP: rs397516808
rs397516808
1 12 112446327 synonymous variant A/G snv 1.6E-05 1.4E-05 0.010 1.000 1 2015 2015
dbSNP: rs7269320
rs7269320
1 20 3865750 missense variant C/T snv 0.16 0.21 0.010 1.000 1 2019 2019
dbSNP: rs781522558
rs781522558
2 1.000 12 56346844 stop gained G/C;T snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs35068180
rs35068180
5 0.851 0.040 11 102845217 upstream gene variant A/-;AA delins 0.010 1.000 1 2013 2013
dbSNP: rs755850200
rs755850200
VDR
2 1.000 0.040 12 47846347 missense variant T/C snv 2.1E-05 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs12487066
rs12487066
2 1.000 0.080 3 106193283 intron variant T/C snv 0.28 0.010 1.000 1 2014 2014
dbSNP: rs1480480967
rs1480480967
2 1.000 0.080 9 21367884 missense variant C/T snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs17886084
rs17886084
2 1.000 0.080 11 102799765 intron variant C/- delins 0.010 1.000 1 2013 2013
dbSNP: rs1818879
rs1818879
7 0.827 0.120 7 22733108 downstream gene variant G/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs3789679
rs3789679
AGT
4 0.925 0.120 1 230713948 intron variant G/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs179363879
rs179363879
3 0.925 0.160 21 44286092 missense variant T/C snv 0.010 1.000 1 2007 2007
dbSNP: rs10814325
rs10814325
7 0.827 0.200 9 36036597 upstream gene variant T/A;C;G snv 0.010 1.000 1 2016 2016
dbSNP: rs12252
rs12252
23 0.695 0.240 11 320772 splice region variant A/G snv 0.13 0.13 0.040 1.000 4 2013 2018
dbSNP: rs2287622
rs2287622
16 0.724 0.240 2 168973818 missense variant A/C;G;T snv 0.57 0.010 1.000 1 2017 2017
dbSNP: rs4273729
rs4273729
5 0.851 0.240 6 32710820 upstream gene variant C/A;G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs12212067
rs12212067
20 0.716 0.320 6 108659993 intron variant T/G snv 0.14 0.010 1.000 1 2018 2018
dbSNP: rs371194629
rs371194629
8 0.790 0.320 6 29830804 3 prime UTR variant -/ATTTGT;ATTTGTTCACGCCT;ATTTGTTCATGCCT ins 0.010 1.000 1 2016 2016
dbSNP: rs4553808
rs4553808
28 0.672 0.320 2 203866282 upstream gene variant A/G;T snv 0.16 0.010 1.000 1 2013 2013
dbSNP: rs4804803
rs4804803
15 0.732 0.360 19 7747847 upstream gene variant A/G snv 0.26 0.020 1.000 2 2012 2014
dbSNP: rs12980275
rs12980275
23 0.701 0.360 19 39241143 upstream gene variant A/G snv 0.36 0.010 1.000 1 2017 2017
dbSNP: rs179008
rs179008
14 0.763 0.360 X 12885540 missense variant A/C;T snv 0.18 0.18 0.010 1.000 1 2010 2010