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Basic information of MC1R :

Official Symbol of Gene MC1R
Species Homo sapiens
Entrez Gene ID 4157
Official Full Name melanocortin 1 receptor
Also known as CMM5; MSH-R; SHEP2
Gene Type protein coding
dbXrefs Ensembl:ENSG00000258839 MIM:155555; AllianceGenome:HGNC:6929
Map Location 16q24.3
Variation Type the red hair color (RHC) variant
refSNP ID Arg151Cys, Arg160Trp, Asp294His

Sample information of multiple sclerosis:

Detected Sample whole blood
Sample Detail N/A
Detected Method N/A
Disease MS
Disease subtype N/A
Population Australian
Sample Size 136 cases with MS / 272 controls

Literature information of multiple sclerosis :

Pubmed ID 18711112
Year 2008
Title Melanocortin 1 receptor genotype, past environmental sun exposure, and risk of multiple sclerosis

Results of multiple sclerosis :

Risk Type Disease risk
Main Result Positive
Result Individually, only the Arg160Trp variant was associated with increased MS risk.The association between RHC variant genotype and MS was more evident for women than for men.
Mechanism/Pathway N/A