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: rs146632606
rs146632606
SLC12A3
1 1.000 0.120 16 56867150 missense variant G/C snv 9.3E-04 1.0E-03 0.800 1.000 19 1996 2015
dbSNP: rs146845953
rs146845953
SLC12A3
1 1.000 0.120 16 56893003 missense variant T/A;C snv 4.0E-04; 1.6E-05 0.700 1.000 17 1996 2015
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: rs147901432
rs147901432
SLC12A3
1 1.000 0.120 16 56885364 missense variant G/A snv 2.8E-05 0.800 1.000 27 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: rs148945966
rs148945966
SLC12A3
1 1.000 0.120 16 56868300 missense variant C/A;T snv 4.0E-06; 1.6E-05 0.700 0
dbSNP: rs150046661
rs150046661
SLC12A3
1 1.000 0.120 16 56872459 missense variant C/A;G;T snv 4.0E-06; 7.6E-05 0.700 1.000 17 1996 2015
dbSNP: rs1555499151
rs1555499151
SLC12A3
1 1.000 0.120 16 56865506 missense variant T/C snv 0.700 0
dbSNP: rs1555499234
rs1555499234
SLC12A3
1 1.000 0.120 16 56867070 frameshift variant C/- del 0.700 0
dbSNP: rs1555501437
rs1555501437
SLC12A3
1 1.000 0.120 16 56893028 missense variant A/G snv 0.700 0
dbSNP: rs1555501632
rs1555501632
SLC12A3
1 1.000 0.120 16 56894585 frameshift variant G/- del 0.700 0
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: 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 26 1996 2016
dbSNP: rs187885782
rs187885782
SLC12A3
1 1.000 0.120 16 56878126 missense variant C/T snv 5.2E-05 6.3E-05 0.700 0
dbSNP: rs199849117
rs199849117
SLC12A3
1 1.000 0.120 16 56913293 missense variant G/A snv 2.0E-04 7.7E-05 0.700 0
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 19 1996 2015
dbSNP: rs200817545
rs200817545
SLC12A3
6 0.925 0.160 16 56879168 missense variant A/C;G;T snv 4.0E-06; 1.6E-04 0.710 < 0.001 1 2017 2017
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: rs201255508
rs201255508
SLC12A3
1 1.000 0.120 16 56865482 missense variant C/T snv 3.2E-05 2.8E-05 0.800 1.000 19 1996 2015
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: rs201555148
rs201555148
SLC12A3
1 1.000 0.120 16 56869728 splice acceptor variant G/A snv 5.2E-05 1.4E-05 0.700 0
dbSNP: rs201721269
rs201721269
SLC12A3 ; MIR6863
1 1.000 0.120 16 56902452 missense variant C/T snv 6.8E-05 3.6E-05 0.700 1.000 17 1996 2015
dbSNP: rs201945662
rs201945662
SLC12A3
1 1.000 0.120 16 56879596 missense variant G/A;C;T snv 1.2E-05; 4.0E-06 0.800 1.000 22 1996 2015
dbSNP: rs202114767
rs202114767
SLC12A3 ; MIR6863
1 1.000 0.120 16 56904402 missense variant G/A snv 1.5E-04 7.7E-05 0.800 1.000 6 1996 2012
dbSNP: rs267607050
rs267607050
SLC12A3
1 1.000 0.120 16 56868355 missense variant C/T snv 3.6E-05 7.0E-06 0.700 1.000 18 1996 2015