DisGeNET - a database of gene-disease associations

Chronic Kidney Diseases, C1561643

Variant: rs1047891 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1047891

CPS1

0.800

GeneticVariation

GWASCAT

Genome-Wide Association Studies of Metabolites in Patients with CKD Identify Multiple Loci and Illuminate Tubular Transport Mechanisms.

29545352

2018

dbSNP:

rs1047891

CPS1

0.800

GeneticVariation

GWASDB

Genome-wide association and functional follow-up reveals new loci for kidney function.

22479191

2012

dbSNP:

rs1047891

CPS1

0.800

GeneticVariation

GWASDB

New loci associated with kidney function and chronic kidney disease.

20383146

2010