Source: UNIPROT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs753840283
rs753840283
SLC12A3
1.000 0.120 16 56872408 missense variant A/C snv 2.8E-05 1.4E-05
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		0.700 1.000 17 1996 2015
dbSNP: rs1355705043
rs1355705043
SLC12A3
1.000 0.120 16 56879638 missense variant A/G snv 4.0E-06
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		0.700 1.000 17 1996 2015
dbSNP: rs1451284628
rs1451284628
SLC12A3
1.000 0.120 16 56882464 missense variant A/G snv
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		0.700 1.000 17 1996 2015
dbSNP: rs762026283
rs762026283
SLC12A3
1.000 0.120 16 56913401 missense variant A/G snv 4.0E-06 1.4E-05
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		0.700 1.000 17 1996 2015
dbSNP: rs773428143
rs773428143
SLC12A3 ; MIR6863
1.000 0.120 16 56904410 missense variant A/G snv 3.2E-05 1.4E-05
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		0.700 1.000 17 1996 2015
dbSNP: rs780433336
rs780433336
SLC12A3
1.000 0.120 16 56882429 missense variant A/G snv 4.0E-06 2.1E-05
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		0.700 0
dbSNP: rs748547209
rs748547209
SLC12A3
1.000 0.120 16 56868327 missense variant A/T snv 1.6E-05 7.0E-06
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		0.700 0
dbSNP: rs1380031877
rs1380031877
SLC12A3
1.000 0.120 16 56870732 missense variant C/A snv
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		0.700 0
dbSNP: rs780502516
rs780502516
SLC12A3
1.000 0.120 16 56865440 missense variant C/A snv 4.0E-06 7.0E-06
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		0.700 0
dbSNP: rs1402444800
rs1402444800
SLC12A3
1.000 0.120 16 56884058 missense variant C/A;G snv 8.0E-06
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		0.700 1.000 17 1996 2015
dbSNP: rs757761069
rs757761069
SLC12A3
1.000 0.120 16 56887950 missense variant C/A;G snv 4.0E-06; 8.0E-06
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		0.700 1.000 17 1996 2015
dbSNP: rs146158333
rs146158333
SLC12A3
1.000 0.120 16 56869762 missense variant C/A;G;T snv 2.7E-04; 4.0E-06; 1.2E-04
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		0.710 1.000 17 1996 2015
dbSNP: rs150046661
rs150046661
SLC12A3
1.000 0.120 16 56872459 missense variant C/A;G;T snv 4.0E-06; 7.6E-05
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		0.700 1.000 17 1996 2015
dbSNP: rs121909382
rs121909382
SLC12A3
1.000 0.120 16 56884142 missense variant C/A;T snv 4.0E-06; 2.4E-05
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		0.810 1.000 18 1996 2018
dbSNP: rs369510226
rs369510226
SLC12A3
1.000 0.120 16 56880205 missense variant C/A;T snv 7.5E-05
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		0.700 1.000 17 1996 2015
dbSNP: rs755069436
rs755069436
SLC12A3
1.000 0.120 16 56872409 missense variant C/A;T snv 4.0E-06; 1.2E-05
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		0.700 1.000 17 1996 2015
dbSNP: rs79351185
rs79351185
SLC12A3
1.000 0.120 16 56884085 missense variant C/A;T snv 4.0E-06; 1.2E-04
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		0.700 1.000 1 2011 2011
dbSNP: rs148945966
rs148945966
SLC12A3
1.000 0.120 16 56868300 missense variant C/A;T snv 4.0E-06; 1.6E-05
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		0.700 0
dbSNP: rs373017321
rs373017321
SLC12A3
1.000 0.120 16 56879630 missense variant C/G snv 8.0E-06
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		0.700 1.000 17 1996 2015
dbSNP: rs200697179
rs200697179
SLC12A3
1.000 0.120 16 56885363 missense variant C/G;T snv 2.5E-05; 1.3E-04
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		0.820 1.000 18 1996 2015
dbSNP: rs779160677
rs779160677
SLC12A3
1.000 0.120 16 56885283 missense variant C/G;T snv 3.8E-05 2.8E-05
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		0.700 1.000 17 1996 2015
dbSNP: rs140012781
rs140012781
SLC12A3
1.000 0.120 16 56886366 missense variant C/T snv 1.6E-04 1.3E-04
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		0.800 1.000 18 1996 2017
dbSNP: rs201255508
rs201255508
SLC12A3
1.000 0.120 16 56865482 missense variant C/T snv 3.2E-05 2.8E-05
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		0.800 1.000 18 1996 2015
dbSNP: rs267607050
rs267607050
SLC12A3
1.000 0.120 16 56868355 missense variant C/T snv 3.6E-05 7.0E-06
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		0.700 1.000 18 1996 2015
dbSNP: rs28936388
rs28936388
SLC12A3
1.000 0.120 16 56870119 missense variant C/T snv 1.2E-05
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome 		0.810 1.000 18 1996 2015