Rs1805008

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Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 2 None
(T;T) 3 ~7-10x higher likelihood of red hair
ReferenceGRCh38 38.1/141
Chromosome16
Position89919736
GeneMC1R
is asnp
is mentioned by
dbSNPrs1805008
PheGenIrs1805008
nextbiors1805008
hapmaprs1805008
1000 genomesrs1805008
hgdprs1805008
ensemblrs1805008
gopubmedrs1805008
geneviewrs1805008
scholarrs1805008
googlers1805008
pharmgkbrs1805008
gwascentralrs1805008
openSNPrs1805008
23andMers1805008
23andMe allrs1805008
SNP Nexus

SNPshotrs1805008
SNPdbers1805008
MSV3drs1805008
GMAF0.02755
Max Magnitude3
? (C;C) (C;T) (T;T) 28
rs1805008, known as Arg160Trp or R160W, is one of several SNPs in the MC1R gene associated with red hair color (redheads), in this case in an Irish population [PMID 9665397] although this has also been reported in Icelandic and Dutch populations [PMID 18488028].

The risk allele is rs1805008(T), compared with the wild-type rs1805008(C) allele.

blog about designing melanocortin analogs specific to these genotypes.

See also OMIM 155555.0005

Neighborrs1805007
Distance27
Neighborrs1805009
Distance402
OMIM266300
DescSKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2; SHEP2
Variant
Relatedalso
OMIM155555
Desc
Variant0005
Relatedalso


ClinVar
Risk rs1805008(T;T)
Alt rs1805008(T;T)
Reference rs1805008(C;C)
Significance Pathogenic
Disease Skin/hair/eye pigmentation 2 Increased analgesia from kappa-opioid receptor agonist OCULOCUTANEOUS ALBINISM
Variation info
Gene MC1R
CLNDBN Skin/hair/eye pigmentation 2, red hair/fair skin Increased analgesia from kappa-opioid receptor agonist, female-specific OCULOCUTANEOUS ALBINISM, TYPE II, MODIFIER OF
Reversed 0
HGVS NC_000016.9:g.89986144C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000015381.24, RCV000015382.20, RCV000015383.20,



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


[PMID 18392143OA-icon.png] Interactions between SNP alleles at multiple loci contribute to skin color differences between caucasoid and mongoloid subjects.


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


[PMID 20585627OA-icon.png] Web-based, participant-driven studies yield novel genetic associations for common traits.


[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

Melanoma


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