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: rs1042636
rs1042636
CASR
23 0.672 0.360 3 122284922 missense variant A/G snv 0.15 9.0E-02 0.060 1.000 6 2006 2019
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: rs11746443
rs11746443
RGS14
4 0.882 0.120 5 177371305 intron variant G/A snv 0.24 0.21 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: rs731236
rs731236
VDR
81 0.542 0.760 12 47844974 synonymous variant A/G snv 0.33 0.34 0.030 0.333 3 2016 2019
dbSNP: rs7975232
rs7975232
VDR
56 0.576 0.760 12 47845054 intron variant C/A snv 0.51 0.55 0.030 0.333 3 2016 2019
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: rs1256328
rs1256328
ALPL
2 0.925 0.120 1 21570274 intron variant C/T snv 0.16 0.14 0.020 1.000 2 2018 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: 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: rs104893726
rs104893726
CLDN16
3 0.882 0.200 3 190408416 missense variant T/G snv 0.700 1.000 1 2018 2018
dbSNP: rs121908523
rs121908523
AGXT
3 0.882 0.160 2 240868986 missense variant G/A snv 1.2E-05 4.2E-05 0.700 1.000 1 2018 2018
dbSNP: rs121908525
rs121908525
AGXT
7 0.790 0.160 2 240875159 missense variant T/C snv 4.4E-05 5.6E-05 0.700 1.000 1 2018 2018
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: rs1450997
rs1450997 		1 1.000 0.080 12 97635322 intergenic variant T/C snv 0.55 0.700 1.000 1 2012 2012
dbSNP: rs145591298
rs145591298
CLDN19
2 0.925 0.120 1 42735969 missense variant C/T snv 1.1E-05 2.1E-05 0.700 1.000 1 2018 2018
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: 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