rs1063380
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs1063380(C;C) |
| Make rs1063380(C;T) |
| Reference | GRCh37.p5 37.3/137 |
| Chromosome | 9 |
| Position | 12710090 |
| Gene | LURAP1L-AS1, TYRP1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1063380 |
| dbSNP (classic) | rs1063380 |
| ClinGen | rs1063380 |
| ebi | rs1063380 |
| HLI | rs1063380 |
| Exac | rs1063380 |
| Gnomad | rs1063380 |
| Varsome | rs1063380 |
| LitVar | rs1063380 |
| Map | rs1063380 |
| PheGenI | rs1063380 |
| Biobank | rs1063380 |
| 1000 genomes | rs1063380 |
| hgdp | rs1063380 |
| ensembl | rs1063380 |
| geneview | rs1063380 |
| scholar | rs1063380 |
| rs1063380 | |
| pharmgkb | rs1063380 |
| gwascentral | rs1063380 |
| openSNP | rs1063380 |
| 23andMe | rs1063380 |
| SNPshot | rs1063380 |
| SNPdbe | rs1063380 |
| MSV3d | rs1063380 |
| GWAS Ctlg | rs1063380 |
| GMAF | 0.3476 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 22457636
] Evidence for Positive Selection on a Number of MicroRNA Regulatory Interactions during Recent Human Evolution
[PMID 18312627] Complex signatures of selection for the melanogenic loci TYR, TYRP1 and DCT in humans.
| ClinVar | |
|---|---|
| Risk | rs1063380(C;C) |
| Alt | rs1063380(C;C) |
| Reference | Rs1063380(T;T) |
| Significance | Non-pathogenic |
| Disease | Oculocutaneous albinism |
| Variation | info |
| Gene | TYRP1 LURAP1L-AS1 |
| CLNDBN | Oculocutaneous albinism |
| Reversed | 0 |
| HGVS | NC_000009.11:g.12710090T>C |
| CLNSRC | |
| CLNACC | RCV000313973.1, |
