DisGeNET - a database of gene-disease associations

Cystic Fibrosis, C0010674

Variant: rs7316 ×

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:

rs7316

rs7316

SFTPB

0.010

GeneticVariation

BEFREE

The results showed (a) Two SNPs, SFTPB rs7316 (<i>p</i> = 0.0083) and SFTPC rs1124 (<i>p</i> = 0.0154), each associated with CF.

2018