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: rs753840283
rs753840283
SLC12A3
1 1.000 0.120 16 56872408 missense variant A/C snv 2.8E-05 1.4E-05 0.700 1.000 17 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: rs1355705043
rs1355705043
SLC12A3
1 1.000 0.120 16 56879638 missense variant A/G snv 4.0E-06 0.700 1.000 17 1996 2015
dbSNP: rs1451284628
rs1451284628
SLC12A3
1 1.000 0.120 16 56882464 missense variant A/G snv 0.700 1.000 17 1996 2015
dbSNP: rs762026283
rs762026283
SLC12A3
1 1.000 0.120 16 56913401 missense variant A/G snv 4.0E-06 1.4E-05 0.700 1.000 17 1996 2015
dbSNP: rs773428143
rs773428143
SLC12A3 ; MIR6863
1 1.000 0.120 16 56904410 missense variant A/G snv 3.2E-05 1.4E-05 0.700 1.000 17 1996 2015
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: rs1555501437
rs1555501437
SLC12A3
1 1.000 0.120 16 56893028 missense variant A/G snv 0.700 0
dbSNP: rs780433336
rs780433336
SLC12A3
1 1.000 0.120 16 56882429 missense variant A/G snv 4.0E-06 2.1E-05 0.700 0
dbSNP: rs748547209
rs748547209
SLC12A3
1 1.000 0.120 16 56868327 missense variant A/T snv 1.6E-05 7.0E-06 0.700 0
dbSNP: rs1555499234
rs1555499234
SLC12A3
1 1.000 0.120 16 56867070 frameshift variant C/- del 0.700 0
dbSNP: rs886041108
rs886041108
SLC12A3
1 1.000 0.120 16 56879543 frameshift variant C/- delins 0.700 0
dbSNP: rs1380031877
rs1380031877
SLC12A3
1 1.000 0.120 16 56870732 missense variant C/A snv 0.700 0
dbSNP: rs780502516
rs780502516
SLC12A3
1 1.000 0.120 16 56865440 missense variant C/A snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs1402444800
rs1402444800
SLC12A3
1 1.000 0.120 16 56884058 missense variant C/A;G snv 8.0E-06 0.700 1.000 17 1996 2015
dbSNP: rs757761069
rs757761069
SLC12A3
1 1.000 0.120 16 56887950 missense variant C/A;G snv 4.0E-06; 8.0E-06 0.700 1.000 17 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 17 1996 2015
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: 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 19 1996 2018
dbSNP: rs369510226
rs369510226
SLC12A3
1 1.000 0.120 16 56880205 missense variant C/A;T snv 7.5E-05 0.700 1.000 17 1996 2015
dbSNP: rs755069436
rs755069436
SLC12A3
1 1.000 0.120 16 56872409 missense variant C/A;T snv 4.0E-06; 1.2E-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: 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: rs559626481
rs559626481
SLC12A3 ; MIR6863
1 1.000 0.120 16 56904401 missense variant C/A;T snv 1.2E-05; 4.0E-05 0.700 1.000 1 2011 2011
dbSNP: rs79351185
rs79351185
SLC12A3
1 1.000 0.120 16 56884085 missense variant C/A;T snv 4.0E-06; 1.2E-04 0.700 1.000 1 2011 2011