DisGeNET - a database of gene-disease associations

Tetralogy of Fallot, C0039685

Variant: rs699947 ×

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:

rs699947

rs699947

VEGFA

0.010

GeneticVariation

BEFREE

In the single SNP analyses, the mutant homozygous genotypes of -2578C/A (rs699947) and +963C/T (rs3025039) were related with an increased risk of TOF.

2015