SLC12A1, solute carrier family 12 member 1, 6557

N. diseases: 87; N. variants: 29
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137853157
rs137853157
Entrez Id: 6557;107984758
Gene Symbol: SLC12A1;LOC107984758
SLC12A1;LOC107984758
CUI: C1866495
Disease:
Bartter syndrome, antenatal type 1 		0.800 GeneticVariation UNIPROT Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2. 8640224 1996
dbSNP: rs137853158
rs137853158
Entrez Id: 6557;112267905
Gene Symbol: SLC12A1;LOC112267905
SLC12A1;LOC112267905
CUI: C1866495
Disease:
Bartter syndrome, antenatal type 1 		0.800 GeneticVariation UNIPROT Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2. 8640224 1996
dbSNP: rs137853157
rs137853157
Entrez Id: 6557;107984758
Gene Symbol: SLC12A1;LOC107984758
SLC12A1;LOC107984758
CUI: C1866495
Disease:
Bartter syndrome, antenatal type 1 		A 0.800 CausalMutation CLINVAR
dbSNP: rs137853158
rs137853158
Entrez Id: 6557;112267905
Gene Symbol: SLC12A1;LOC112267905
SLC12A1;LOC112267905
CUI: C1866495
Disease:
Bartter syndrome, antenatal type 1 		T 0.800 CausalMutation CLINVAR
dbSNP: rs1555466999
rs1555466999
Entrez Id: 6557;107984758
Gene Symbol: SLC12A1;LOC107984758
SLC12A1;LOC107984758
CUI: C0392525
Disease:
Nephrolithiasis 		A 0.700 GeneticVariation CLINVAR Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis. 28893421 2018
dbSNP: rs1555466999
rs1555466999
Entrez Id: 6557;107984758
Gene Symbol: SLC12A1;LOC107984758
SLC12A1;LOC107984758
CUI: C0027709
Disease:
Nephrocalcinosis 		A 0.700 GeneticVariation CLINVAR Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis. 28893421 2018
dbSNP: rs779588655
rs779588655
Entrez Id: 6557
Gene Symbol: SLC12A1
SLC12A1
CUI: C0392525
Disease:
Nephrolithiasis 		A 0.700 GeneticVariation CLINVAR Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis. 28893421 2018
dbSNP: rs779588655
rs779588655
Entrez Id: 6557
Gene Symbol: SLC12A1
SLC12A1
CUI: C0027709
Disease:
Nephrocalcinosis 		A 0.700 GeneticVariation CLINVAR Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis. 28893421 2018
dbSNP: rs896545456
rs896545456
Entrez Id: 6557;112267905
Gene Symbol: SLC12A1;LOC112267905
SLC12A1;LOC112267905
CUI: C0392525
Disease:
Nephrolithiasis 		A 0.700 GeneticVariation CLINVAR Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis. 28893421 2018
dbSNP: rs896545456
rs896545456
Entrez Id: 6557;112267905
Gene Symbol: SLC12A1;LOC112267905
SLC12A1;LOC112267905
CUI: C0027709
Disease:
Nephrocalcinosis 		A 0.700 GeneticVariation CLINVAR Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis. 28893421 2018
dbSNP: rs765347751
rs765347751
Entrez Id: 6557;107984758
Gene Symbol: SLC12A1;LOC107984758
SLC12A1;LOC107984758
CUI: C1866495
Disease:
Bartter syndrome, antenatal type 1 		A 0.700 GeneticVariation CLINVAR A novel SLC12A1 gene mutation associated with hyperparathyroidism, hypercalcemia, nephrogenic diabetes insipidus, and nephrocalcinosis in four patients. 28095294 2017
dbSNP: rs1878186
rs1878186
Entrez Id: 6557;112267905
Gene Symbol: SLC12A1;LOC112267905
SLC12A1;LOC112267905
CUI: C0024141
Disease:
Lupus Erythematosus, Systemic 		C 0.700 GeneticVariation GWASCAT Genome-Wide Association Study in an Amerindian Ancestry Population Reveals Novel Systemic Lupus Erythematosus Risk Loci and the Role of European Admixture. 26606652 2016
dbSNP: rs11070629
rs11070629
Entrez Id: 6557
Gene Symbol: SLC12A1
SLC12A1
CUI: C0523465
Disease:
Serum albumin measurement 		0.700 GeneticVariation GWASDB Genome-wide association study identifies multiple loci influencing human serum metabolite levels. 22286219 2012
dbSNP: rs765347751
rs765347751
Entrez Id: 6557;107984758
Gene Symbol: SLC12A1;LOC107984758
SLC12A1;LOC107984758
CUI: C1866495
Disease:
Bartter syndrome, antenatal type 1 		A 0.700 GeneticVariation CLINVAR Long-term follow-up of patients with Bartter syndrome type I and II. 20219833 2010
dbSNP: rs11070627
rs11070627
Entrez Id: 6557;50804;399697
Gene Symbol: SLC12A1;MYEF2;CTXN2
SLC12A1;MYEF2;CTXN2
CUI: C0037290
Disease:
Skin Pigmentation 		0.700 GeneticVariation GWASDB A genomewide association study of skin pigmentation in a South Asian population. 17999355 2007
dbSNP: rs12913316
rs12913316
Entrez Id: 6557;399697
Gene Symbol: SLC12A1;CTXN2
SLC12A1;CTXN2
CUI: C0037290
Disease:
Skin Pigmentation 		0.700 GeneticVariation GWASDB A genomewide association study of skin pigmentation in a South Asian population. 17999355 2007
dbSNP: rs1320052
rs1320052
Entrez Id: 6557;399697
Gene Symbol: SLC12A1;CTXN2
SLC12A1;CTXN2
CUI: C0037290
Disease:
Skin Pigmentation 		0.700 GeneticVariation GWASDB A genomewide association study of skin pigmentation in a South Asian population. 17999355 2007
dbSNP: rs1531916
rs1531916
Entrez Id: 6557;107984756
Gene Symbol: SLC12A1;LOC107984756
SLC12A1;LOC107984756
CUI: C0037290
Disease:
Skin Pigmentation 		0.700 GeneticVariation GWASDB A genomewide association study of skin pigmentation in a South Asian population. 17999355 2007
dbSNP: rs16960682
rs16960682
Entrez Id: 6557;112267905
Gene Symbol: SLC12A1;LOC112267905
SLC12A1;LOC112267905
CUI: C0037290
Disease:
Skin Pigmentation 		0.700 GeneticVariation GWASDB A genomewide association study of skin pigmentation in a South Asian population. 17999355 2007
dbSNP: rs1843144
rs1843144
Entrez Id: 6557;107984756;112267905
Gene Symbol: SLC12A1;LOC107984756;LOC112267905
SLC12A1;LOC107984756;LOC112267905
CUI: C0037290
Disease:
Skin Pigmentation 		0.700 GeneticVariation GWASDB A genomewide association study of skin pigmentation in a South Asian population. 17999355 2007
dbSNP: rs2413890
rs2413890
Entrez Id: 6557;107984756
Gene Symbol: SLC12A1;LOC107984756
SLC12A1;LOC107984756
CUI: C0037290
Disease:
Skin Pigmentation 		0.700 GeneticVariation GWASDB A genomewide association study of skin pigmentation in a South Asian population. 17999355 2007
dbSNP: rs765347751
rs765347751
Entrez Id: 6557;107984758
Gene Symbol: SLC12A1;LOC107984758
SLC12A1;LOC107984758
CUI: C1866495
Disease:
Bartter syndrome, antenatal type 1 		A 0.700 GeneticVariation CLINVAR Mutations in the human Na-K-2Cl cotransporter (NKCC2) identified in Bartter syndrome type I consistently result in nonfunctional transporters. 12761241 2003
dbSNP: rs765347751
rs765347751
Entrez Id: 6557;107984758
Gene Symbol: SLC12A1;LOC107984758
SLC12A1;LOC107984758
CUI: C1866495
Disease:
Bartter syndrome, antenatal type 1 		A 0.700 GeneticVariation CLINVAR Novel molecular variants of the Na-K-2Cl cotransporter gene are responsible for antenatal Bartter syndrome. 9585600 1998
dbSNP: rs1057519608
rs1057519608
Entrez Id: 6557
Gene Symbol: SLC12A1
SLC12A1
CUI: C1866495
Disease:
Bartter syndrome, antenatal type 1 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1057520300
rs1057520300
Entrez Id: 6557
Gene Symbol: SLC12A1
SLC12A1
CUI: C1866495
Disease:
Bartter syndrome, antenatal type 1 		G 0.700 CausalMutation CLINVAR