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: rs1801726
rs1801726
CASR
13 0.732 0.280 3 122284985 missense variant G/C snv 0.95 0.92 0.010 1.000 1 2007 2007
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: rs184187143
rs184187143
SLC26A6
4 0.882 0.200 3 48628699 missense variant C/A;G snv 1.8E-03 1.6E-03 0.010 1.000 1 2016 2016
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: 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: rs219778
rs219778
CLDN14 ; LOC105369301
3 0.925 0.120 21 36462343 intron variant A/G snv 0.31 0.010 1.000 1 2015 2015
dbSNP: rs219780
rs219780
CLDN14 ; LOC105369301
2 0.925 0.120 21 36461009 synonymous variant C/A;T snv 4.0E-06; 0.16 0.010 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: 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
dbSNP: rs3752472
rs3752472
KL
3 0.882 0.120 13 33055256 missense variant C/T snv 2.9E-02 1.5E-02 0.010 1.000 1 2013 2013
dbSNP: rs3818292
rs3818292
SIRT1
5 0.827 0.280 10 67907144 intron variant A/G snv 7.1E-02 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: rs4293393
rs4293393
UMOD
8 0.827 0.200 16 20353266 intron variant A/G snv 0.20 0.010 1.000 1 2017 2017
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: rs6449213
rs6449213
SLC2A9 ; LOC105374476
7 0.827 0.240 4 9992591 intron variant C/T snv 0.82 0.010 1.000 1 2010 2010
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: rs6553010
rs6553010
MTNR1A ; LOC105377596
7 0.851 0.240 4 186535189 intron variant G/A snv 0.23 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: rs733175
rs733175
SLC2A9
5 0.851 0.240 4 10048517 intron variant C/T snv 0.77 0.010 1.000 1 2010 2010