DisGeNET - a database of gene-disease associations

Cockayne Syndrome, Type I, C0751039

Variant: rs6265 ×

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:

rs6265

rs6265

BDNF ; BDNF-AS

0.010

GeneticVariation

BEFREE

This study aims to examine <i>COMT</i> Val158Met (rs4680) and <i>BDNF</i> Val66Met (rs6265) polymorphisms in CSA.

2020