SLC12A2, solute carrier family 12 member 2, 6558

N. diseases: 128; N. variants: 7
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs185689480
rs185689480
Entrez Id: 6558
Gene Symbol: SLC12A2
SLC12A2
CUI: C0427460
Disease:
Red cell distribution width determination 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs185689480
rs185689480
Entrez Id: 6558
Gene Symbol: SLC12A2
SLC12A2
CUI: C1304746
Disease:
RDW - Red blood cell distribution width result 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs2568928
rs2568928
Entrez Id: 6558
Gene Symbol: SLC12A2
SLC12A2
CUI: C0200638
Disease:
Eosinophil count procedure 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs3101725
rs3101725
Entrez Id: 6558
Gene Symbol: SLC12A2
SLC12A2
CUI: C0042345
Disease:
Varicosity 		C 0.700 GeneticVariation GWASCAT Varicose veins of lower extremities: Insights from the first large-scale genetic study. 30998689 2019
dbSNP: rs3812049
rs3812049
Entrez Id: 6558;644873
Gene Symbol: SLC12A2;LINC01184
SLC12A2;LINC01184
CUI: C0424621
Disease:
Body Fat Distribution 		C 0.700 GeneticVariation GWASCAT Genome-wide association study of body fat distribution identifies adiposity loci and sex-specific genetic effects. 30664634 2019
dbSNP: rs3101725
rs3101725
Entrez Id: 6558
Gene Symbol: SLC12A2
SLC12A2
CUI: C0042345
Disease:
Varicosity 		C 0.700 GeneticVariation GWASCAT Clinical and Genetic Determinants of Varicose Veins. 30566020 2018
dbSNP: rs7734927
rs7734927
Entrez Id: 6558
Gene Symbol: SLC12A2
SLC12A2
CUI: C0427460
Disease:
Red cell distribution width determination 		A 0.700 GeneticVariation GWASCAT Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers. 28957414 2017
dbSNP: rs7734927
rs7734927
Entrez Id: 6558
Gene Symbol: SLC12A2
SLC12A2
CUI: C1304746
Disease:
RDW - Red blood cell distribution width result 		A 0.700 GeneticVariation GWASCAT Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers. 28957414 2017
dbSNP: rs3812049
rs3812049
Entrez Id: 6558;644873
Gene Symbol: SLC12A2;LINC01184
SLC12A2;LINC01184
CUI: C1304746
Disease:
RDW - Red blood cell distribution width result 		G 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs3812049
rs3812049
Entrez Id: 6558;644873
Gene Symbol: SLC12A2;LINC01184
SLC12A2;LINC01184
CUI: C0200635
Disease:
Lymphocyte Count measurement 		G 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs3812049
rs3812049
Entrez Id: 6558;644873
Gene Symbol: SLC12A2;LINC01184
SLC12A2;LINC01184
CUI: C0427460
Disease:
Red cell distribution width determination 		G 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs886040968
rs886040968
Entrez Id: 6558
Gene Symbol: SLC12A2
SLC12A2
CUI: C0267963
Disease:
Exocrine pancreatic insufficiency 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs886040968
rs886040968
Entrez Id: 6558
Gene Symbol: SLC12A2
SLC12A2
CUI: C0007193
Disease:
Cardiomyopathy, Dilated 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs886040968
rs886040968
Entrez Id: 6558
Gene Symbol: SLC12A2
SLC12A2
CUI: C1535893
Disease:
Orthostatic intolerance 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs3087889
rs3087889
Entrez Id: 6558
Gene Symbol: SLC12A2
SLC12A2
CUI: C0036341
Disease:
Schizophrenia 		0.010 GeneticVariation BEFREE The minor allele at rs3087889, associated with reduced NKCC1b expression (homozygous for major allele: N = 37; homozygous for minor allele: N = 15; 1.5-fold decrease; p < 0.01), was also associated with a modest increase in schizophrenia risk in a case-control sample (controls: N = 435; cases: N = 397, OR = 1.5). 24695712 2014