rs1805005
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| (G;T) |
| Make rs1805005(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 89919436 |
| Gene | MC1R |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1805005 |
| dbSNP (classic) | rs1805005 |
| ClinGen | rs1805005 |
| ebi | rs1805005 |
| HLI | rs1805005 |
| Exac | rs1805005 |
| Gnomad | rs1805005 |
| Varsome | rs1805005 |
| LitVar | rs1805005 |
| Map | rs1805005 |
| PheGenI | rs1805005 |
| Biobank | rs1805005 |
| 1000 genomes | rs1805005 |
| hgdp | rs1805005 |
| ensembl | rs1805005 |
| geneview | rs1805005 |
| scholar | rs1805005 |
| rs1805005 | |
| pharmgkb | rs1805005 |
| gwascentral | rs1805005 |
| openSNP | rs1805005 |
| 23andMe | rs1805005 |
| SNPshot | rs1805005 |
| SNPdbe | rs1805005 |
| MSV3d | rs1805005 |
| GWAS Ctlg | rs1805005 |
| GMAF | 0.05096 |
| Max Magnitude | 0 |
| ? | (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
| ClinVar | |
|---|---|
| Risk | rs1805005(T;T) |
| Alt | rs1805005(T;T) |
| Reference | Rs1805005(G;G) |
| Significance | Other |
| Disease | Skin/hair/eye pigmentation 2 not specified Malignant Melanoma Susceptibility |
| Variation | info |
| Gene | MC1R |
| CLNDBN | Skin/hair/eye pigmentation 2, blond hair/fair skin not specified Malignant Melanoma Susceptibility |
| Reversed | 0 |
| HGVS | NC_000016.9:g.89985844G>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000015384.26, RCV000242490.1, RCV000276119.1, |
[PMID 17999355
] A genomewide association study of skin pigmentation in a South Asian population.
[PMID 20042077] 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 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
