rs387907171
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 3 | Carrier of a blond hair variant |
| Make rs387907171(T;T) |
| Reference | GRCh37.p10 37.5/138 |
| Chromosome | 9 |
| Position | 12694273 |
| Gene | TYRP1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs387907171 |
| dbSNP (classic) | rs387907171 |
| ClinGen | rs387907171 |
| ebi | rs387907171 |
| HLI | rs387907171 |
| Exac | rs387907171 |
| Gnomad | rs387907171 |
| Varsome | rs387907171 |
| LitVar | rs387907171 |
| Map | rs387907171 |
| PheGenI | rs387907171 |
| Biobank | rs387907171 |
| 1000 genomes | rs387907171 |
| hgdp | rs387907171 |
| ensembl | rs387907171 |
| geneview | rs387907171 |
| scholar | rs387907171 |
| rs387907171 | |
| pharmgkb | rs387907171 |
| gwascentral | rs387907171 |
| openSNP | rs387907171 |
| 23andMe | rs387907171 |
| SNPshot | rs387907171 |
| SNPdbe | rs387907171 |
| MSV3d | rs387907171 |
| GWAS Ctlg | rs387907171 |
| Max Magnitude | 3 |
aka c.277C>T (p.Arg93Cys or R93C)
Inherited recessively, the rare minor allele of this SNP is reported to cause blond hair in (dark-skinned) Melanesians from the Solomon Islands.[PMID 22556244
]
| ClinVar | |
|---|---|
| Risk | rs387907171(T;T) |
| Alt | rs387907171(T;T) |
| Reference | Rs387907171(C;C) |
| Significance | Other |
| Disease | Skin/hair/eye pigmentation |
| Variation | info |
| Gene | TYRP1 |
| CLNDBN | Skin/hair/eye pigmentation, variation in, 11 |
| Reversed | 0 |
| HGVS | NC_000009.11:g.12694273C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000024318.29, |
