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: rs1450997
rs1450997 		1 1.000 0.080 12 97635322 intergenic variant T/C snv 0.55 0.700 1.000 1 2012 2012
dbSNP: rs912875
rs912875
DGKH
1 1.000 0.080 13 42103102 intron variant A/C;T snv 0.700 1.000 1 2012 2012
dbSNP: rs9315891
rs9315891
DGKH
1 1.000 0.080 13 42124943 intron variant C/T snv 0.44 0.700 1.000 1 2012 2012
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: 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: 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: 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: 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: 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: rs17646069
rs17646069
DGKH
2 0.925 0.120 13 42229127 missense variant T/C snv 4.5E-02 2.7E-02 0.010 1.000 1 2017 2017
dbSNP: rs201331677
rs201331677
SLC34A1
2 0.925 0.120 5 177398090 missense variant C/T snv 3.2E-05 2.8E-05 0.700 1.000 1 2018 2018
dbSNP: rs2098435
rs2098435
C12orf60
2 0.925 0.120 12 14851655 intron variant G/A snv 0.44 0.010 1.000 1 2018 2018
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: rs2430692
rs2430692 		2 0.925 0.120 12 14912889 downstream gene variant A/G snv 0.47 0.010 1.000 1 2018 2018
dbSNP: rs307247
rs307247
PTH
2 0.925 0.120 11 13491931 downstream gene variant G/A snv 0.40 0.010 1.000 1 2018 2018
dbSNP: rs307248
rs307248
PTH
2 0.925 0.120 11 13491818 downstream gene variant A/C snv 0.40 0.010 1.000 1 2018 2018
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: rs376131751
rs376131751
SLC34A1
2 0.925 0.120 5 177396762 missense variant G/C snv 2.8E-05 1.7E-04 0.700 1.000 1 2018 2018
dbSNP: rs6464214
rs6464214
HIPK2
2 0.925 0.120 7 139754366 intron variant A/G snv 0.37 0.010 1.000 1 2018 2018
dbSNP: rs6486795
rs6486795
ORAI1
2 0.925 0.120 12 121638011 intron variant T/C snv 0.26 0.010 1.000 1 2011 2011
dbSNP: rs756685605
rs756685605
SLC34A1
2 0.925 0.120 5 177397832 missense variant A/G snv 4.0E-06 1.4E-05 0.010 1.000 1 2015 2015
dbSNP: rs757796926
rs757796926
GRHPR
2 0.925 0.120 9 37426659 splice region variant G/A snv 4.0E-06 7.0E-06 0.700 1.000 1 2018 2018