DisGeNET - a database of gene-disease associations

Cutaneous Melanoma, C0151779

Variant: rs1805008 ×

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:

rs1805008

MC1R

0.030

GeneticVariation

BEFREE

A strong association between CM and red hair was identified for rs1805007, and rs1805008 in the <i>MC1R</i> gene was mainly associated with red hair.

31612033

2019

dbSNP:

rs1805008

MC1R

0.030

GeneticVariation

BEFREE

Polymorphisms rs 1805007 (R151C), rs 1805008 (R160W), and rs 1805009 (D294H) were detected in 174 DNA samples from patients with histologically proved diagnosis of cutaneous melanoma and in 200 samples from healthy individuals.

30086893

2018

dbSNP:

rs1805008

MC1R

0.030

GeneticVariation

BEFREE

Three active alleles (Arg151Cys, Arg160Trp, and Asp294His), previously associated with red hair, doubled CMM risk for each additional allele carried (odds ratio 2.0; 95% confidence interval 1.6-2.6).

10631149

2000