rs11547464
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 3.5 | red hair |
| (A;G) | 3 | red hair carrier |
| (G;G) | 0 | normal |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 89919683 |
| Gene | MC1R |
| is a | snp |
| is | mentioned by |
| dbSNP | rs11547464 |
| dbSNP (classic) | rs11547464 |
| ClinGen | rs11547464 |
| ebi | rs11547464 |
| HLI | rs11547464 |
| Exac | rs11547464 |
| Gnomad | rs11547464 |
| Varsome | rs11547464 |
| LitVar | rs11547464 |
| Map | rs11547464 |
| PheGenI | rs11547464 |
| Biobank | rs11547464 |
| 1000 genomes | rs11547464 |
| hgdp | rs11547464 |
| ensembl | rs11547464 |
| geneview | rs11547464 |
| scholar | rs11547464 |
| rs11547464 | |
| pharmgkb | rs11547464 |
| gwascentral | rs11547464 |
| openSNP | rs11547464 |
| 23andMe | rs11547464 |
| SNPshot | rs11547464 |
| SNPdbe | rs11547464 |
| MSV3d | rs11547464 |
| GWAS Ctlg | rs11547464 |
| GMAF | 0.003673 |
| Max Magnitude | 3.5 |
This missense mutation influences red hair color and has been observed in the Spanish maternal ancestry of User:Corpas son.
[PMID 20585627
] Web-based, participant-driven studies yield novel genetic associations for common traits.
| GWAS snp | |
|---|---|
| PMID | [PMID 30531825]
|
| Trait | Hair color |
| Title | Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability. |
| Risk Allele | A |
| P-val | 3E-50 |
| Odds Ratio | |
| ClinVar | |
|---|---|
| Risk | Rs11547464(A;A) |
| Alt | Rs11547464(A;A) |
| Reference | Rs11547464(G;G) |
| Significance | Probable-non-pathogenic |
| Disease | Cutaneous malignant melanoma 5 Malignant Melanoma Susceptibility |
| Variation | info |
| Gene | MC1R |
| CLNDBN | Cutaneous malignant melanoma 5 Malignant Melanoma Susceptibility |
| Reversed | 0 |
| HGVS | NC_000016.9:g.89986091G>A |
| CLNSRC | |
| CLNACC | RCV000227554.2, RCV000344548.1, |
