DisGeNET - a database of gene-disease associations

Source: GWASDB

Disease: Hirschsprung Disease ×

Variant: rs12220534 ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs12220534

rs12220534

RASGEF1A

CUI:	C0019569
Disease:	Hirschsprung Disease

Hirschsprung Disease

0.700

GeneticVariation

GWASDB

Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease.

2009