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: 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: 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: 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: 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: 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: 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: rs7627468
rs7627468
CASR
1 1.000 0.120 3 122227252 intron variant A/G snv 0.74 0.700 1.000 1 2015 2015
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: 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: 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: 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: 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: 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: rs1544410
rs1544410
VDR
78 0.542 0.760 12 47846052 intron variant C/A;G;T snv 0.020 1.000 2 2016 2019
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: rs757494578
rs757494578
TRPV5
2 0.925 0.120 7 142912681 missense variant A/C snv 0.020 1.000 2 2015 2017
dbSNP: rs1014290
rs1014290
SLC2A9 ; LOC105374476
6 0.827 0.280 4 10000237 intron variant G/A snv 0.72 0.010 1.000 1 2010 2010
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: rs10509291
rs10509291 		6 0.827 0.280 10 67875446 downstream gene variant T/A snv 7.1E-02 0.010 1.000 1 2019 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: rs114234874
rs114234874
ATP6V1B1 ; VAX2
3 0.882 0.200 2 70959974 missense variant G/A snv 3.0E-02 2.6E-02 0.010 1.000 1 2016 2016