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: rs72664220
rs72664220
ABCC6
5 0.882 0.280 16 16157770 frameshift variant -/G delins 0.700 0
dbSNP: rs757494578
rs757494578
TRPV5
2 0.925 0.120 7 142912681 missense variant A/C snv 0.020 1.000 2 2015 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: 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: 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: rs10735810
rs10735810
VDR
26 0.662 0.640 12 47879112 start lost A/C;G;T snv 0.010 < 0.001 1 2019 2019
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: 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: 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: 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: rs1467568
rs1467568
SIRT1
8 0.776 0.320 10 67915401 intron variant A/G snv 0.46 0.010 1.000 1 2019 2019
dbSNP: rs17251221
rs17251221
CASR
18 0.724 0.360 3 122274400 intron variant A/G snv 0.11 0.010 < 0.001 1 2011 2011
dbSNP: rs17576
rs17576
MMP9
73 0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36 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: 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: 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: 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: 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: 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: rs72653786
rs72653786
ABCC6
9 0.882 0.280 16 16178961 missense variant A/G;T snv 0.700 0
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: rs16260
rs16260
CDH1
19 0.716 0.440 16 68737131 upstream gene variant C/A snv 0.24 0.010 1.000 1 2013 2013
dbSNP: rs1555523841
rs1555523841
ABCC6
6 0.882 0.280 16 16223398 splice donor variant C/A snv 0.700 0
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