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: rs738409
rs738409
88 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.800 1.000 29 2010 2019
dbSNP: rs1800562
rs1800562
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.060 1.000 6 1998 2012
dbSNP: rs1799945
rs1799945
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.050 1.000 5 1999 2012
dbSNP: rs58542926
rs58542926
42 0.630 0.440 19 19268740 missense variant C/T snv 6.5E-02 5.8E-02 0.050 1.000 5 2015 2017
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 0.500 2 2007 2008
dbSNP: rs1260326
rs1260326
81 0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68 0.020 1.000 2 2013 2014
dbSNP: rs2228570
rs2228570
VDR
99 0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 0.020 1.000 2 2018 2018
dbSNP: rs2896019
rs2896019
10 0.790 0.160 22 43937814 intron variant T/G snv 0.20 0.710 1.000 2 2013 2014
dbSNP: rs641738
rs641738
22 0.689 0.320 19 54173068 missense variant T/A;C;G snv 0.020 1.000 2 2018 2019
dbSNP: rs738491
rs738491
3 0.882 0.040 22 43958231 intron variant C/T snv 0.34 0.710 1.000 2 2013 2015
dbSNP: rs7946
rs7946
6 0.851 0.160 17 17506246 missense variant C/T snv 0.59 0.59 0.020 1.000 2 2007 2019
dbSNP: rs1007863
rs1007863
1 1.000 22 43999571 missense variant T/A;C snv 0.44 0.700 1.000 1 2013 2013
dbSNP: rs1010022
rs1010022
1 1.000 22 43940430 intron variant A/G snv 0.20 0.700 1.000 1 2013 2013
dbSNP: rs1010023
rs1010023
4 0.851 0.080 22 43940218 intron variant T/C snv 0.20 0.700 1.000 1 2013 2013
dbSNP: rs10499563
rs10499563
7 0.807 0.120 7 22720869 intron variant T/C snv 0.21 0.010 1.000 1 2016 2016
dbSNP: rs10741657
rs10741657
34 0.637 0.520 11 14893332 upstream gene variant A/G snv 0.65 0.010 1.000 1 2018 2018
dbSNP: rs11090617
rs11090617
1 1.000 22 43930820 intron variant C/T snv 0.18 0.700 1.000 1 2013 2013
dbSNP: rs12447924
rs12447924
3 1.000 16 56960280 upstream gene variant C/T snv 0.76 0.010 1.000 1 2012 2012
dbSNP: rs12483959
rs12483959
4 1.000 22 43930116 intron variant G/A;C;T snv 0.700 1.000 1 2013 2013
dbSNP: rs12597002
rs12597002
3 1.000 16 56968492 intron variant C/A snv 0.25 0.010 1.000 1 2012 2012
dbSNP: rs12743824
rs12743824
2 0.925 0.040 1 99317401 intergenic variant C/A snv 0.48 0.010 1.000 1 2015 2015
dbSNP: rs1461729
rs1461729
5 1.000 8 9329732 intron variant A/G snv 0.88 0.700 1.000 1 2013 2013
dbSNP: rs1474745
rs1474745
1 1.000 22 43953356 intron variant T/C snv 0.19 0.700 1.000 1 2013 2013
dbSNP: rs1572982
rs1572982
HFE
7 0.827 0.200 6 26094139 intron variant G/A;T snv 0.52; 8.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs17107315
rs17107315
40 0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03 0.010 1.000 1 2009 2009