rs1800419
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs1800419(C;C) |
| Make rs1800419(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 15 |
| Position | 27851392 |
| Gene | OCA2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1800419 |
| dbSNP (classic) | rs1800419 |
| ClinGen | rs1800419 |
| ebi | rs1800419 |
| HLI | rs1800419 |
| Exac | rs1800419 |
| Gnomad | rs1800419 |
| Varsome | rs1800419 |
| LitVar | rs1800419 |
| Map | rs1800419 |
| PheGenI | rs1800419 |
| Biobank | rs1800419 |
| 1000 genomes | rs1800419 |
| hgdp | rs1800419 |
| ensembl | rs1800419 |
| geneview | rs1800419 |
| scholar | rs1800419 |
| rs1800419 | |
| pharmgkb | rs1800419 |
| gwascentral | rs1800419 |
| openSNP | rs1800419 |
| 23andMe | rs1800419 |
| SNPshot | rs1800419 |
| SNPdbe | rs1800419 |
| MSV3d | rs1800419 |
| GWAS Ctlg | rs1800419 |
| GMAF | 0.4518 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 17236130
] A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation.
[PMID 18392143] Interactions between SNP alleles at multiple loci contribute to skin color differences between caucasoid and mongoloid subjects.
| ClinVar | |
|---|---|
| Risk | rs1800419(C;C) |
| Alt | rs1800419(C;C) |
| Reference | Rs1800419(T;T) |
| Significance | Non-pathogenic |
| Disease | not specified Oculocutaneous albinism |
| Variation | info |
| Gene | OCA2 |
| CLNDBN | not specified Oculocutaneous albinism |
| Reversed | 1 |
| HGVS | NC_000015.9:g.28096538A>G |
| CLNSRC | |
| CLNACC | RCV000176255.2, RCV000305128.1, |
