rs1805008
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 2.5 | Red hair carrier, higher risk of melanoma |
| (T;T) | 3 | ~7-10x higher likelihood of red hair; higher risk of melanoma |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 89919736 |
| Gene | MC1R |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1805008 |
| dbSNP (classic) | rs1805008 |
| ClinGen | rs1805008 |
| ebi | rs1805008 |
| HLI | rs1805008 |
| Exac | rs1805008 |
| Gnomad | rs1805008 |
| Varsome | rs1805008 |
| LitVar | rs1805008 |
| Map | rs1805008 |
| PheGenI | rs1805008 |
| Biobank | rs1805008 |
| 1000 genomes | rs1805008 |
| hgdp | rs1805008 |
| ensembl | rs1805008 |
| geneview | rs1805008 |
| scholar | rs1805008 |
| rs1805008 | |
| pharmgkb | rs1805008 |
| gwascentral | rs1805008 |
| openSNP | rs1805008 |
| 23andMe | rs1805008 |
| SNPshot | rs1805008 |
| SNPdbe | rs1805008 |
| MSV3d | rs1805008 |
| GWAS Ctlg | rs1805008 |
| GMAF | 0.02755 |
| Max Magnitude | 3 |
| ? | (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
| ClinVar | |
|---|---|
| Risk | Rs1805008(T;T) |
| Alt | Rs1805008(T;T) |
| Reference | Rs1805008(C;C) |
| Significance | Other |
| Disease | Skin/hair/eye pigmentation 2 Increased analgesia from kappa-opioid receptor agonist OCULOCUTANEOUS ALBINISM not specified not provided Malignant Melanoma Susceptibility |
| 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 not specified not provided Malignant Melanoma Susceptibility |
| Reversed | 0 |
| HGVS | NC_000016.9:g.89986144C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000015381.27, RCV000015382.22, RCV000015383.23, RCV000244718.1, RCV000255906.1, RCV000356300.1, |
[PMID 17999355
] A genomewide association study of skin pigmentation in a South Asian population.
[PMID 18392143] Interactions between SNP alleles at multiple loci contribute to skin color differences between caucasoid and mongoloid subjects.
[PMID 20042077] Genetic determinants of hair and eye colours in the Scottish and Danish populations.
[PMID 20585627] 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 23100201] 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 23393597] Replication and Predictive Value of SNPs Associated with Melanoma and Pigmentation Traits in a Southern European Case-Control Study
[PMID 25631192] The MC1R melanoma risk variant p.R160W is associated with Parkinson disease.
[PMID 28242083] Association of five SNPs with human hair colour in the Polish population.
