DisGeNET - a database of gene-disease associations

Atrial Premature Complexes, C0033036

Variant: rs459552 ×

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:

rs459552

APC

0.030

GeneticVariation

BEFREE

It is therefore unlikely that APC D1822V serves as an important marker for colorectal carcinoma.

14616385

2003

dbSNP:

rs459552

APC

0.030

GeneticVariation

BEFREE

When independently assessed in 971 patients with colorectal cancer and 954 healthy control subjects, none of the identified missense APC alterations conferred a significantly increased risk for colorectal cancer, odds ratio (95 percent confidence intervals): S130G = 3.1 (0.29-32.25), E1317Q = 1.08 (0.59-2.74), G2502S = 1 (0.65-1.63), D1822V (heterozygous) = 0.79 (0.64-0.98), D1822V (homozygous) = 0.82 (0.63-1.27).

18612690

2008

dbSNP:

rs459552

APC

0.030

GeneticVariation

BEFREE

Fat intake modified the APC D1822V-adenoma association, but further studies are warranted.

20510605

2010