DisGeNET - a database of gene-disease associations

Idiopathic Pulmonary Fibrosis, C1800706

Variant: rs121917738 ×

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:

rs121917738

rs121917738

SFTPA2

0.800

GeneticVariation

UNIPROT

Genetic defects in surfactant protein A2 are associated with pulmonary fibrosis and lung cancer.

2009

dbSNP:

rs121917738

rs121917738

SFTPA2

G

0.800

CausalMutation

CLINVAR