Source: BEFREE ×
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: rs371443644
rs371443644
SLC12A3
2 0.925 0.160 16 56865414 missense variant C/T snv 5.6E-05 4.2E-05 0.830 1.000 3 1996 2016
dbSNP: rs121909385
rs121909385
SLC12A3
1 1.000 0.120 16 56885307 missense variant T/C snv 6.1E-06 0.820 1.000 2 1996 2015
dbSNP: rs200697179
rs200697179
SLC12A3
1 1.000 0.120 16 56885363 missense variant C/G;T snv 2.5E-05; 1.3E-04 0.820 1.000 2 1996 2015
dbSNP: rs121909382
rs121909382
SLC12A3
1 1.000 0.120 16 56884142 missense variant C/A;T snv 4.0E-06; 2.4E-05 0.810 1.000 1 1996 2018
dbSNP: rs185927948
rs185927948
SLC12A3
1 1.000 0.120 16 56894555 missense variant T/A snv 6.0E-05 1.4E-05 0.810 1.000 1 1996 2016
dbSNP: rs28936388
rs28936388
SLC12A3
1 1.000 0.120 16 56870119 missense variant C/T snv 1.2E-05 0.810 1.000 1 1996 2015
dbSNP: rs775931992
rs775931992
SLC12A3
1 1.000 0.120 16 56879087 missense variant C/T snv 1.2E-05 2.1E-05 0.810 1.000 1 1996 2015
dbSNP: rs146158333
rs146158333
SLC12A3
1 1.000 0.120 16 56869762 missense variant C/A;G;T snv 2.7E-04; 4.0E-06; 1.2E-04 0.710 1.000 1 1996 2015
dbSNP: rs148038173
rs148038173
SLC12A3
1 1.000 0.120 16 56882492 missense variant C/T snv 6.0E-05 7.7E-05 0.710 1.000 1 2006 2006
dbSNP: rs200817545
rs200817545
SLC12A3
1 0.925 0.160 16 56879168 missense variant A/C;G;T snv 4.0E-06; 1.6E-04 0.710 < 0.001 1 2017 2017
dbSNP: rs753523115
rs753523115
SLC12A3
2 0.925 0.160 16 56880142 missense variant G/A snv 2.5E-05 7.0E-06 0.710 1.000 1 2016 2016
dbSNP: rs886039754
rs886039754
SLC12A3
1 1.000 0.120 16 56885358 missense variant A/G snv 6.3E-06; 1.3E-05 0.710 1.000 1 2018 2018
dbSNP: rs771316846
rs771316846
CLCNKB
2 0.925 0.160 1 16045636 missense variant T/C snv 8.0E-06 0.020 1.000 2 2008 2016
dbSNP: rs11643718
rs11643718
SLC12A3
8 0.807 0.240 16 56899607 missense variant G/A snv 0.11 8.4E-02 0.010 1.000 1 2019 2019
dbSNP: rs121909132
rs121909132
CLCNKB
3 0.882 0.160 1 16048537 missense variant G/A snv 7.6E-05 6.3E-05 0.010 1.000 1 2010 2010
dbSNP: rs147670020
rs147670020
ACE
1 1.000 0.120 17 63480459 missense variant C/A;T snv 8.0E-06; 3.2E-05 0.010 1.000 1 2006 2006
dbSNP: rs1805124
rs1805124
SCN5A
16 0.742 0.280 3 38603929 missense variant T/C snv 0.22 0.25 0.010 1.000 1 2018 2018
dbSNP: rs201124663
rs201124663
SLC12A3
1 1.000 0.120 16 56870665 missense variant C/T snv 1.3E-04 7.0E-05 0.010 1.000 1 2006 2006
dbSNP: rs201540273
rs201540273
CLCNKB
2 0.925 0.160 1 16051725 missense variant G/A snv 2.4E-05 7.7E-05 0.010 1.000 1 2003 2003
dbSNP: rs4302
rs4302
ACE
1 1.000 0.120 17 63480461 synonymous variant C/T snv 2.1E-03 8.2E-03 0.010 1.000 1 2006 2006
dbSNP: rs546999572
rs546999572
SLC12A3
1 1.000 0.120 16 56887044 stop gained C/A;T snv 2.0E-05; 3.6E-05 0.010 1.000 1 2010 2010
dbSNP: rs749698843
rs749698843
SLC12A3
1 1.000 0.120 16 56870725 missense variant T/C snv 3.6E-05 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs777815715
rs777815715
SLC12A3
1 1.000 0.120 16 56879073 missense variant G/A snv 4.1E-06 0.010 1.000 1 2018 2018
dbSNP: rs780723377
rs780723377
REN
1 1.000 0.120 1 204155042 missense variant G/A snv 1.6E-05 2.1E-05 0.010 1.000 1 2014 2014