DisGeNET - a database of gene-disease associations

SCNN1A, sodium channel epithelial 1 subunit alpha, 6337

N. diseases: 98; N. variants: 18

Disease: Cystic Fibrosis ×

Variant: rs5742912 ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs5742912

rs5742912

Entrez Id:	6337;107984500
Gene Symbol:	SCNN1A;LOC107984500

SCNN1A;LOC107984500

CUI:	C0010674
Disease:

Cystic Fibrosis

0.010

GeneticVariation

BEFREE

Frequency of p.W493R was lower in CF parents than in Caucasian control subjects.

2012