Rs1805009

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Orientationplus
Geno Mag Summary
(C;C) 3 red hair possible
(C;G) 2 None
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome16
Position89920138
GeneMC1R, TUBB3
is asnp
is mentioned by
dbSNPrs1805009
PheGenIrs1805009
nextbiors1805009
hapmaprs1805009
1000 genomesrs1805009
hgdprs1805009
ensemblrs1805009
gopubmedrs1805009
geneviewrs1805009
scholarrs1805009
googlers1805009
pharmgkbrs1805009
gwascentralrs1805009
openSNPrs1805009
23andMers1805009
23andMe allrs1805009
SNP Nexus

SNPshotrs1805009
SNPdbers1805009
MSV3drs1805009
GMAF0.005051
Max Magnitude3
rs1805009, known as Asp294His or D294H and located in the MC1R gene, is the most common variant associated with red hair (redheads) and poor tanning ability in one study. [PMID 7581459]

The risk allele is rs1805009(C), compared with the wild-type rs1805009(G) allele.

See also OMIM 155555.0001

Neighborrs1805008
Distance402

blog about designing melanocortin analogs specific to these genotypes.

OMIM155555
Desc
Variant0001
Relatedalso
ClinVar
Risk rs1805009(C;C)
Alt rs1805009(C;C)
Reference rs1805009(G;G)
Significance Pathogenic
Disease Skin/hair/eye pigmentation 2
Variation info
Gene TUBB3 MC1R
CLNDBN Skin/hair/eye pigmentation 2, red hair/fair skin
Reversed 0
HGVS NC_000016.9:g.89986546G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000015377.24,


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


[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.