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: rs138308105
rs138308105
CLDN16
7 0.925 0.200 3 190408323 missense variant G/A;C snv 6.8E-05 2.6E-04 0.700 0
dbSNP: rs1557551678
rs1557551678
CLDN19
9 0.882 0.160 1 42738421 missense variant C/A snv 0.700 0
dbSNP: rs200817545
rs200817545
SLC12A3
6 0.925 0.160 16 56879168 missense variant A/C;G;T snv 4.0E-06; 1.6E-04 0.700 0
dbSNP: rs28938168
rs28938168
FXYD2 ; FXYD6-FXYD2
3 1.000 0.160 11 117822424 missense variant C/T snv 0.030 1.000 3 2003 2015
dbSNP: rs1043614377
rs1043614377
CNNM2
2 1.000 0.040 10 103049727 missense variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs104893701
rs104893701
CASR
3 0.925 0.120 3 122284317 missense variant T/G snv 0.010 1.000 1 2014 2014
dbSNP: rs121909267
rs121909267
CASR
2 1.000 3 122257288 missense variant C/G snv 0.010 1.000 1 2014 2014
dbSNP: rs199473648
rs199473648
KCNE2 ; LOC105372791
4 1.000 0.080 21 34370507 missense variant C/T snv 2.5E-04 2.4E-04 0.010 1.000 1 2008 2008
dbSNP: rs2274924
rs2274924
TRPM6
6 0.851 0.160 9 74761731 missense variant T/C snv 0.20 0.23 0.010 1.000 1 2017 2017
dbSNP: rs3750425
rs3750425
TRPM6
2 1.000 0.080 9 74762494 missense variant C/A;T snv 8.0E-06; 0.12 0.010 1.000 1 2017 2017
dbSNP: rs752010
rs752010
HIVEP3
3 0.925 0.080 1 41627344 intron variant C/T snv 0.59 0.010 1.000 1 2020 2020