rs1805009
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 3 | red hair possible, higher risk of melanoma |
| (C;G) | 2.5 | Red hair carrier, higher risk of melanoma |
| (G;G) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 89920138 |
| Gene | MC1R, TUBB3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1805009 |
| dbSNP (classic) | rs1805009 |
| ClinGen | rs1805009 |
| ebi | rs1805009 |
| HLI | rs1805009 |
| Exac | rs1805009 |
| Gnomad | rs1805009 |
| Varsome | rs1805009 |
| LitVar | rs1805009 |
| Map | rs1805009 |
| PheGenI | rs1805009 |
| Biobank | rs1805009 |
| 1000 genomes | rs1805009 |
| hgdp | rs1805009 |
| ensembl | rs1805009 |
| geneview | rs1805009 |
| scholar | rs1805009 |
| rs1805009 | |
| pharmgkb | rs1805009 |
| gwascentral | rs1805009 |
| openSNP | rs1805009 |
| 23andMe | rs1805009 |
| SNPshot | rs1805009 |
| SNPdbe | rs1805009 |
| MSV3d | rs1805009 |
| GWAS Ctlg | rs1805009 |
| GMAF | 0.005051 |
| Max Magnitude | 3 |
rs1805009, known as Asp294His or D294H and located in the MC1R gene, is a variant associated with red hair (redheads) and low tanning in one study. [PMID 30531825
],[PMID 7581459] Reported as i3002507 by 23andMe in January 2015.
The risk allele is rs1805009(C), compared with the wild-type rs1805009(G) allele.
See also OMIM 155555.0001
blog about designing melanocortin analogs specific to these genotypes.
| ClinVar | |
|---|---|
| Risk | rs1805009(A;A) Rs1805009(C;C) |
| Alt | rs1805009(A;A) Rs1805009(C;C) |
| Reference | Rs1805009(G;G) |
| Significance | Other |
| Disease | Skin/hair/eye pigmentation 2 Cutaneous malignant melanoma 5 not specified Malignant Melanoma Susceptibility not provided |
| Variation | info |
| Gene | TUBB3 MC1R |
| CLNDBN | Skin/hair/eye pigmentation 2, red hair/fair skin Cutaneous malignant melanoma 5 not specified Malignant Melanoma Susceptibility not provided |
| Reversed | 0 |
| HGVS | NC_000016.9:g.89986546G>C |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000015377.26, RCV000231551.2, RCV000243405.1, RCV000299359.1, RCV000347221.2, |
[PMID 17999355] A genomewide association study of skin pigmentation in a South Asian population.
[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.
