DisGeNET - a database of gene-disease associations

Congenital defects, C0220810

Variant: rs1799983 ×

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:

rs1799983

rs1799983

NOS3

0.010

GeneticVariation

BEFREE

In humans, a single nucleotide polymorphism in the gene coding for eNOS (894G>T) is associated with birth defects.

2008