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: rs7652589
rs7652589 		13 0.732 0.400 3 122170241 downstream gene variant A/G snv 0.60 0.060 1.000 6 2011 2019
dbSNP: rs12654812
rs12654812
RGS14
5 0.925 0.120 5 177367190 intron variant G/A snv 0.34 0.040 1.000 4 2013 2019
dbSNP: rs1501899
rs1501899
CASR
8 0.790 0.240 3 122188481 intron variant A/G snv 0.62 0.040 1.000 4 2011 2019
dbSNP: rs1000597
rs1000597 		3 0.925 0.120 7 30897563 intron variant T/A;C snv 0.830 1.000 3 2012 2017
dbSNP: rs4142110
rs4142110
DGKH
3 0.925 0.120 13 42180386 intron variant T/C snv 0.34 0.830 1.000 3 2012 2017
dbSNP: rs6776158
rs6776158
CASR
2 0.925 0.120 3 122183002 upstream gene variant G/A snv 0.61 0.030 1.000 3 2013 2019
dbSNP: rs12669187
rs12669187
MINDY4 ; INMT-MINDY4
3 0.925 0.120 7 30875863 intron variant G/A snv 7.2E-02 0.020 1.000 2 2013 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: 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: rs1014290
rs1014290
SLC2A9 ; LOC105374476
6 0.827 0.280 4 10000237 intron variant G/A snv 0.72 0.010 1.000 1 2010 2010
dbSNP: rs104893726
rs104893726
CLDN16
3 0.882 0.200 3 190408416 missense variant T/G snv 0.700 1.000 1 2018 2018
dbSNP: rs10509291
rs10509291 		6 0.827 0.280 10 67875446 downstream gene variant T/A snv 7.1E-02 0.010 1.000 1 2019 2019
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: rs1170155
rs1170155
DGKH
2 0.925 0.120 13 42128575 intron variant C/T snv 0.65 0.010 1.000 1 2013 2013
dbSNP: rs12313273
rs12313273
ORAI1
4 0.882 0.160 12 121625105 upstream gene variant T/C snv 0.23 0.010 1.000 1 2011 2011
dbSNP: rs13140012
rs13140012
MTNR1A ; LOC105377596
6 0.827 0.320 4 186544404 intron variant T/A snv 0.41 0.010 1.000 1 2012 2012
dbSNP: rs1450997
rs1450997 		1 1.000 0.080 12 97635322 intergenic variant T/C snv 0.55 0.700 1.000 1 2012 2012
dbSNP: rs1467568
rs1467568
SIRT1
8 0.776 0.320 10 67915401 intron variant A/G snv 0.46 0.010 1.000 1 2019 2019
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: rs16260
rs16260
CDH1
19 0.716 0.440 16 68737131 upstream gene variant C/A snv 0.24 0.010 1.000 1 2013 2013
dbSNP: rs17251221
rs17251221
CASR
18 0.724 0.360 3 122274400 intron variant A/G snv 0.11 0.010 < 0.001 1 2011 2011