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: rs12654812
rs12654812
RGS14
5 0.925 0.120 5 177367190 intron variant G/A snv 0.34 0.740 1.000 5 2013 2019
dbSNP: rs1000597
rs1000597 		3 0.925 0.120 7 30897563 intron variant T/A;C snv 0.030 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 0.030 1.000 3 2012 2017
dbSNP: rs1256328
rs1256328
ALPL
2 0.925 0.120 1 21570274 intron variant C/T snv 0.16 0.14 0.720 1.000 3 2015 2019
dbSNP: rs4142110
rs4142110
DGKH
3 0.925 0.120 13 42180386 intron variant T/C snv 0.34 0.030 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: rs219778
rs219778
CLDN14 ; LOC105369301
3 0.925 0.120 21 36462343 intron variant A/G snv 0.31 0.710 1.000 2 2009 2015
dbSNP: rs219780
rs219780
CLDN14 ; LOC105369301
2 0.925 0.120 21 36461009 synonymous variant C/A;T snv 4.0E-06; 0.16 0.810 1.000 2 2009 2015
dbSNP: rs757494578
rs757494578
TRPV5
2 0.925 0.120 7 142912681 missense variant A/C snv 0.020 1.000 2 2015 2017
dbSNP: rs1042138
rs1042138
CALCR
3 0.882 0.120 7 93426338 3 prime UTR variant G/A snv 0.15 0.11 0.010 < 0.001 1 2017 2017
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: rs151340624
rs151340624
CLCN5
4 0.851 0.120 X 50090846 stop gained C/T snv 0.010 1.000 1 1999 1999
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: rs182089527
rs182089527
PDE1A
3 0.925 0.120 2 182241913 start lost A/C snv 1.5E-03 5.3E-04 0.010 1.000 1 2017 2017
dbSNP: rs199565725
rs199565725
CLDN14 ; LOC105369301
1 1.000 0.120 21 36462941 intron variant CA/- delins 6.6E-02 0.700 1.000 1 2015 2015
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: rs219781
rs219781
CLDN14 ; LOC105369301
2 1.000 0.120 21 36460323 non coding transcript exon variant G/T snv 0.25 0.700 1.000 1 2009 2009
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: rs2607420
rs2607420
ITPKC
3 0.925 0.120 19 40738982 intron variant G/A snv 0.76 0.010 1.000 1 2014 2014
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