DisGeNET - a database of gene-disease associations

SCNN1B, sodium channel epithelial 1 subunit beta, 6338

N. diseases: 86; N. variants: 21

Disease: Hypertensive disease ×

Variant: rs1799980 ×

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:

rs1799980

rs1799980

Entrez Id:	6338
Gene Symbol:	SCNN1B

SCNN1B

CUI:	C0020538
Disease:

Hypertensive disease

0.010

GeneticVariation

BEFREE

There were 3 NSV of SCNN1B (R206Q, G442V, and R563Q); 2 previously described and 1 associated with hypertension.

2017