rs1042602
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | associated with the absence of freckles | |
| (A;C) | None | |
| (C;C) | 0 | None |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 89178528 |
| Gene | LOC107984363, TYR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1042602 |
| dbSNP (classic) | rs1042602 |
| ClinGen | rs1042602 |
| ebi | rs1042602 |
| HLI | rs1042602 |
| Exac | rs1042602 |
| Gnomad | rs1042602 |
| Varsome | rs1042602 |
| LitVar | rs1042602 |
| Map | rs1042602 |
| PheGenI | rs1042602 |
| Biobank | rs1042602 |
| 1000 genomes | rs1042602 |
| hgdp | rs1042602 |
| ensembl | rs1042602 |
| geneview | rs1042602 |
| scholar | rs1042602 |
| rs1042602 | |
| pharmgkb | rs1042602 |
| gwascentral | rs1042602 |
| openSNP | rs1042602 |
| 23andMe | rs1042602 |
| SNPshot | rs1042602 |
| SNPdbe | rs1042602 |
| MSV3d | rs1042602 |
| GWAS Ctlg | rs1042602 |
| GMAF | 0.1823 |
| Max Magnitude | 0 |
| ? | (A;A) (A;C) (C;C) | 28 |
|---|---|---|
|
| ||
Influences appearance
The A allele of rs1042602 is associated with the absence of freckles
| GWAS | |
|---|---|
| SNP | rs1042602 |
| PubMedID | [PMID 17999355 ]
|
| Condition | Skin pigmentation by reflectance spectroscopy |
| Gene | TYR |
| Risk Allele | C |
| pValue | 4.00E-010 |
| OR | 4.36 |
| 95% CI | 2.64-7.20 |
| GWAS snp | |
|---|---|
| PMID | [PMID 17952075] |
| Trait | Freckles |
| Title | Genetic determinants of hair, eye and skin pigmentation in Europeans |
| Risk Allele | C |
| P-val | 1.9999999999999999E-11 |
| Odds Ratio | 1.32 [1.17-1.49] |
| ClinVar | |
|---|---|
| Risk | Rs1042602(A;A) |
| Alt | Rs1042602(A;A) |
| Reference | Rs1042602(C;C) |
| Significance | Other |
| Disease | Skin/hair/eye pigmentation Tyrosinase-negative oculocutaneous albinism not provided not specified Oculocutaneous albinism |
| Variation | info |
| Gene | TYR |
| CLNDBN | Skin/hair/eye pigmentation, variation in, 3 Tyrosinase-negative oculocutaneous albinism not provided not specified Oculocutaneous albinism |
| Reversed | 0 |
| HGVS | NC_000011.9:g.88911696C>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000003977.4, RCV000055807.1, RCV000085955.1, RCV000173114.2, RCV000341159.1, |
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