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: rs1000597
rs1000597 		3 0.925 0.120 7 30897563 intron variant T/A;C snv 0.830 1.000 3 2012 2017
dbSNP: rs1544410
rs1544410
VDR
78 0.542 0.760 12 47846052 intron variant C/A;G;T snv 0.020 1.000 2 2016 2019
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 2016 2019
dbSNP: rs757494578
rs757494578
TRPV5
2 0.925 0.120 7 142912681 missense variant A/C snv 0.020 1.000 2 2015 2017
dbSNP: rs7981733
rs7981733
DGKH
2 0.925 0.120 13 42115924 intron variant C/A;T snv 0.710 1.000 2 2012 2013
dbSNP: rs104893726
rs104893726
CLDN16
3 0.882 0.200 3 190408416 missense variant T/G snv 0.700 1.000 1 2018 2018
dbSNP: rs10735810
rs10735810
VDR
26 0.662 0.640 12 47879112 start lost A/C;G;T snv 0.010 < 0.001 1 2019 2019
dbSNP: rs1168879812
rs1168879812
ALPL
2 0.925 0.120 1 21577539 missense variant G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs121964880
rs121964880
ATP6V1B1 ; VAX2
4 0.851 0.280 2 70958113 missense variant T/C snv 4.0E-06 0.700 1.000 1 2018 2018
dbSNP: rs1373464667
rs1373464667
SLC34A3
2 0.925 0.120 9 137232889 missense variant C/G;T snv 4.5E-05 0.010 1.000 1 2008 2008
dbSNP: rs151340624
rs151340624
CLCN5
4 0.851 0.120 X 50090846 stop gained C/T snv 0.010 1.000 1 1999 1999
dbSNP: rs151340627
rs151340627
CLCN5
3 0.882 0.160 X 50086551 stop gained G/A snv 0.010 1.000 1 1998 1998
dbSNP: rs1555466999
rs1555466999
SLC12A1 ; LOC107984758
2 0.925 0.120 15 48244876 missense variant G/A snv 0.700 1.000 1 2018 2018
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 1.000 1 2019 2019
dbSNP: rs180177161
rs180177161
AGXT
3 0.882 0.160 2 240878721 missense variant G/A;C snv 5.9E-06 0.700 1.000 1 2018 2018
dbSNP: rs180177227
rs180177227
AGXT
3 0.882 0.160 2 240871406 missense variant G/A;C;T snv 1.8E-05; 1.3E-05 0.700 1.000 1 2018 2018
dbSNP: rs199690076
rs199690076
SLC34A3
3 0.882 0.240 9 137233223 missense variant C/G;T snv 4.4E-04 0.010 1.000 1 2019 2019
dbSNP: rs219780
rs219780
CLDN14 ; LOC105369301
2 0.925 0.120 21 36461009 synonymous variant C/A;T snv 4.0E-06; 0.16 0.010 1.000 1 2015 2015
dbSNP: rs2231142
rs2231142
ABCG2
56 0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12 0.010 1.000 1 2019 2019
dbSNP: rs367995295
rs367995295
CYP24A1
2 0.925 0.120 20 54165807 stop gained T/A;G snv 1.6E-05; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs4236
rs4236
MGP ; C12orf60
4 0.925 0.120 12 14882147 missense variant T/A;C snv 0.37 0.010 1.000 1 2018 2018
dbSNP: rs4236480
rs4236480
TRPV5
3 0.882 0.120 7 142929454 missense variant T/A;C;G snv 0.010 1.000 1 2015 2015
dbSNP: rs5896
rs5896
F2
4 0.882 0.160 11 46723453 missense variant C/G;T snv 0.21 0.010 1.000 1 2012 2012
dbSNP: rs7135617
rs7135617
ORAI1
5 0.827 0.240 12 121631099 intron variant T/C;G snv 0.010 1.000 1 2011 2011
dbSNP: rs737267
rs737267
SLC2A9
7 0.851 0.240 4 9933120 intron variant G/A;T snv 0.010 1.000 1 2010 2010