DisGeNET - a database of gene-disease associations

Ventricular Septal Defects, C0018818

Variant: rs1800844 ×

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:

rs1800844

rs1800844

PSEN1

0.010

GeneticVariation

BEFREE

The aim of this study was to evaluate the association between two single-nucleotide polymorphisms (rs1800844 and rs177415) of presenilin-1 and VSD.

2011