rs1805006
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 3 | Melanoma risk; red hair |
| (A;C) | 2.5 | Red hair carrier, higher risk of melanoma |
| (C;C) | 0 | common in complete genomics |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 89919510 |
| Gene | MC1R |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1805006 |
| dbSNP (classic) | rs1805006 |
| ClinGen | rs1805006 |
| ebi | rs1805006 |
| HLI | rs1805006 |
| Exac | rs1805006 |
| Gnomad | rs1805006 |
| Varsome | rs1805006 |
| LitVar | rs1805006 |
| Map | rs1805006 |
| PheGenI | rs1805006 |
| Biobank | rs1805006 |
| 1000 genomes | rs1805006 |
| hgdp | rs1805006 |
| ensembl | rs1805006 |
| geneview | rs1805006 |
| scholar | rs1805006 |
| rs1805006 | |
| pharmgkb | rs1805006 |
| gwascentral | rs1805006 |
| openSNP | rs1805006 |
| 23andMe | rs1805006 |
| SNPshot | rs1805006 |
| SNPdbe | rs1805006 |
| MSV3d | rs1805006 |
| GWAS Ctlg | rs1805006 |
| GMAF | 0.004132 |
| Max Magnitude | 3 |
rs1805006, known as Asp84Glu or D84E, is one of several SNPs in the MC1R gene associated with higher risk of melanoma. [PMID 8894704]
The risk allele is rs1805006(A), compared with the wild-type rs1805006(C) allele.
Allelic odds ratio for pale skin(P-value)=5.19(<1.0e-5)MC1R*D84E rs1805006 http://genepi.qimr.edu.au/contents/p/staff/Duffyetal_JID_520-528Jan10.pdf
See also OMIM 155555.0003
| ClinVar | |
|---|---|
| Risk | Rs1805006(A;A) rs1805006(G;G) |
| Alt | Rs1805006(A;A) rs1805006(G;G) |
| Reference | Rs1805006(C;C) |
| Significance | Other |
| Disease | Cutaneous malignant melanoma 5 Malignant Melanoma Susceptibility not provided |
| Variation | info |
| Gene | MC1R |
| CLNDBN | Cutaneous malignant melanoma 5 Malignant Melanoma Susceptibility not provided |
| Reversed | 0 |
| HGVS | NC_000016.9:g.89985918C>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000015380.4, RCV000375124.1, RCV000413549.1, |
[PMID 17999355
] A genomewide association study of skin pigmentation in a South Asian population.
[PMID 20670983] The Multiple Sclerosis Severity Score: associations with MC1R single nucleotide polymorphisms and host response to ultraviolet radiation.
