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 0.020 1.000 2 2015 2017
dbSNP: rs1126616
rs1126616
SPP1
8 0.827 0.280 4 87982701 synonymous variant C/G;T snv 0.32 0.26 0.020 1.000 2 2013 2015
dbSNP: rs121907892
rs121907892
SLC22A12
8 0.807 0.240 11 64593747 stop gained G/A;C snv 2.8E-04 0.020 1.000 2 2006 2007
dbSNP: rs1801725
rs1801725
CASR
39 0.633 0.600 3 122284910 missense variant G/T snv 0.13 0.11 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 1.000 1 2019 2019
dbSNP: rs11746443
rs11746443
RGS14
4 0.882 0.120 5 177371305 intron variant G/A snv 0.24 0.21 0.700 1.000 1 2019 2019
dbSNP: rs1207568
rs1207568
KL
3 0.925 0.120 13 33016046 upstream gene variant G/A snv 0.17 0.010 1.000 1 2019 2019
dbSNP: rs121907896
rs121907896
SLC22A12
5 0.851 0.200 11 64591825 missense variant G/A snv 1.8E-04 8.4E-05 0.010 1.000 1 2007 2007
dbSNP: rs1260326
rs1260326
GCKR
81 0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68 0.700 1.000 1 2019 2019
dbSNP: rs13006480
rs13006480 		1 1.000 0.080 2 27764354 intergenic variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs13041834
rs13041834 		1 1.000 0.080 20 54086745 intergenic variant T/C snv 0.42 0.700 1.000 1 2019 2019
dbSNP: rs1544935
rs1544935 		3 0.925 0.160 6 39156672 intergenic variant T/G snv 0.18 0.700 1.000 1 2019 2019
dbSNP: rs1801197
rs1801197
CALCR
5 0.851 0.240 7 93426441 missense variant A/G snv 0.39 0.36 0.010 1.000 1 2019 2019
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 2015 2015
dbSNP: rs2079742
rs2079742
BCAS3
9 0.851 0.240 17 61388336 non coding transcript exon variant T/C snv 0.20 0.700 1.000 1 2019 2019
dbSNP: rs2286526
rs2286526
TBX2-AS1
2 1.000 0.080 17 61394696 non coding transcript exon variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs35747824
rs35747824
PDILT
1 1.000 0.080 16 20381986 intron variant A/T snv 0.24 0.700 1.000 1 2019 2019
dbSNP: rs3798519
rs3798519
TFAP2B
2 1.000 0.080 6 50821065 intron variant A/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs4236480
rs4236480
TRPV5
3 0.882 0.120 7 142929454 missense variant T/A;C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs4236481
rs4236481
TRPV5
1 1.000 0.080 7 142929678 intron variant C/A;G snv 0.010 1.000 1 2019 2019
dbSNP: rs4252402
rs4252402
TRPV5
1 1.000 0.080 7 142930043 intron variant A/G snv 0.79 0.010 1.000 1 2019 2019
dbSNP: rs4252417
rs4252417
TRPV5
1 1.000 0.080 7 142928163 synonymous variant G/A snv 5.1E-02 9.2E-02 0.010 1.000 1 2019 2019
dbSNP: rs6123359
rs6123359 		2 1.000 0.080 20 54098167 regulatory region variant A/G snv 0.12 0.700 1.000 1 2019 2019
dbSNP: rs6667242
rs6667242 		1 1.000 0.080 1 21500073 intergenic variant A/G snv 0.16 0.700 1.000 1 2019 2019
dbSNP: rs6928986
rs6928986
EPB41L2
1 1.000 0.080 6 131002852 intron variant C/T snv 0.78 0.700 1.000 1 2019 2019