Rs1805005

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Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1805005(G;T)
Make rs1805005(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position89919436
GeneMC1R
is asnp
is mentioned by
dbSNPrs1805005
Exacrs1805005
PheGenIrs1805005
nextbiors1805005
hapmaprs1805005
1000 genomesrs1805005
hgdprs1805005
ensemblrs1805005
gopubmedrs1805005
geneviewrs1805005
scholarrs1805005
googlers1805005
pharmgkbrs1805005
gwascentralrs1805005
openSNPrs1805005
23andMers1805005
23andMe allrs1805005
SNP Nexus

SNPshotrs1805005
SNPdbers1805005
MSV3drs1805005
GMAF0.05096
Max Magnitude0
? (G;G) (G;T) (T;T) 28
rs1805005, known as Val60Leu or V60L, is a SNP in the MC1R gene associated with light blond hair color in one study. [PMID 9302268]

The risk allele is rs1805005(T), compared with the wild-type rs1805005(G) allele.

See also OMIM 155555.0006

Neighborrs1805006
Distance74
OMIM155555
Desc
Variant0006
Relatedalso


ClinVar
Risk rs1805005(T;T)
Alt rs1805005(T;T)
Reference rs1805005(G;G)
Significance Pathogenic
Disease Skin/hair/eye pigmentation 2
Variation info
Gene MC1R
CLNDBN Skin/hair/eye pigmentation 2, blond hair/fair skin
Reversed 0
HGVS NC_000016.9:g.89985844G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000015384.24,



[PMID 17999355OA-icon.png] A genomewide association study of skin pigmentation in a South Asian population.


[PMID 20042077OA-icon.png] Genetic determinants of hair and eye colours in the Scottish and Danish populations.


[PMID 20670983] The Multiple Sclerosis Severity Score: associations with MC1R single nucleotide polymorphisms and host response to ultraviolet radiation.


[PMID 23100201OA-icon.png] A single-nucleotide polymorphism (SNP) multiplex system: the association of five SNPs with human eye and hair color in the Slovenian population and comparison using a Bayesian network and logistic regression model


[PMID 23393597OA-icon.png] Replication and Predictive Value of SNPs Associated with Melanoma and Pigmentation Traits in a Southern European Case-Control Study