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: rs1256328
rs1256328
ALPL
2 0.925 0.120 1 21570274 intron variant C/T snv 0.16 0.14 0.020 1.000 2 2018 2019
dbSNP: rs1168879812
rs1168879812
ALPL
2 0.925 0.120 1 21577539 missense variant G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs145591298
rs145591298
CLDN19
2 0.925 0.120 1 42735969 missense variant C/T snv 1.1E-05 2.1E-05 0.700 1.000 1 2018 2018
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
dbSNP: rs121908523
rs121908523
AGXT
3 0.882 0.160 2 240868986 missense variant G/A snv 1.2E-05 4.2E-05 0.700 1.000 1 2018 2018
dbSNP: rs121908525
rs121908525
AGXT
7 0.790 0.160 2 240875159 missense variant T/C snv 4.4E-05 5.6E-05 0.700 1.000 1 2018 2018
dbSNP: rs121964880
rs121964880
ATP6V1B1 ; VAX2
4 0.851 0.280 2 70958113 missense variant T/C snv 4.0E-06 0.700 1.000 1 2018 2018
dbSNP: rs180177161
rs180177161
AGXT
3 0.882 0.160 2 240878721 missense variant G/A;C snv 5.9E-06 0.700 1.000 1 2018 2018
dbSNP: rs180177227
rs180177227
AGXT
3 0.882 0.160 2 240871406 missense variant G/A;C;T snv 1.8E-05; 1.3E-05 0.700 1.000 1 2018 2018
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: rs778000327
rs778000327
SLC3A1
2 0.925 0.120 2 44280877 frameshift variant G/- del 2.7E-04 0.700 1.000 1 2018 2018
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: 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: rs104893726
rs104893726
CLDN16
3 0.882 0.200 3 190408416 missense variant T/G snv 0.700 1.000 1 2018 2018
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: rs1801725
rs1801725
CASR
39 0.633 0.600 3 122284910 missense variant G/T snv 0.13 0.11 0.010 1.000 1 2018 2018
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: 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: rs756322971
rs756322971
CASR
9 0.763 0.240 3 122284955 missense variant C/A;G snv 0.010 1.000 1 2007 2007
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: rs13140012
rs13140012
MTNR1A ; LOC105377596
6 0.827 0.320 4 186544404 intron variant T/A snv 0.41 0.010 1.000 1 2012 2012
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: 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