RS1042602 TYR
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What This Variant Does
"Influences appearance The A allele of rs1042602 is associated with the absence of freckles [OMIM:SK...
Associated Conditions
SKIN/HAIR/EYE PIGMENTATION 3
LIGHT/DARK SKIN
Oculocutaneous albinism type 1A
Oculocutaneous albinism
Oculocutaneous albinism type 1B
Albinism or congenital nystagmus
Pigmentary skin disorders
SKIN/HAIR/EYE PIGMENTATION 3
LIGHT/DARK SKIN
Oculocutaneous albinism type 1A
Oculocutaneous albinism
Oculocutaneous albinism type 1B
Albinism or congenital nystagmus
Pigmentary skin disorders
GWAS Studies (20)
| Trait | Risk Allele | OR / Beta | P-value | Study |
|---|---|---|---|---|
| Hair color | — | — | 3E-279 | PubMed |
| Blond vs. brown/black hair color | A | OR: 1.33 | 2E-200 | PubMed |
| Hair color | A | β: 0.065 | 1E-100 | PubMed |
| Brown vs. black hair color | A | OR: 1.15 | 2E-27 | PubMed |
| Brain shape (segment 122) | — | — | 3E-24 | PubMed |
| Retinal nerve fibre layer (RNFL) thickness | A | OR: 0.36 | 4E-22 | PubMed |
| Retinal nerve fibre layer thickness or ganglion cell inner plexiform layer thickness (MTAG) | A | OR: 0.36 | 4E-22 | PubMed |
| Dyschromia and Vitiligo (PheCode 694) | C | OR: 0.11 | 2E-19 | PubMed |
| Dyschromia and Vitiligo (PheCode 694) | C | OR: 0.11 | 7E-19 | PubMed |
| Other dyschromia (PheCode 694.2) | C | OR: 0.11 | 3E-16 | PubMed |
| Macular thickness | — | OR: 0.57 | 1E-15 | PubMed |
| Intraocular pressure | C | β: 0.096 | 2E-12 | PubMed |
| Disorders of iris and ciliary body (PheCode 379.5) | C | OR: 0.15 | 2E-12 | PubMed |
| Disorders of iris and ciliary body (PheCode 379.5) | C | OR: 0.14 | 7E-12 | PubMed |
| Freckles | C | OR: 1.32 | 2E-11 | PubMed |
| Ganglion cell inner plexiform layer (GCIPL) thickness | A | OR: 0.33 | 2E-11 | PubMed |
| Skin pigmentation | C | OR: 4.36 | 4E-10 | PubMed |
| Skin pigmentation | — | — | 9E-10 | PubMed |
| Skin pigmentation | — | OR: 0.23 | 9E-10 | PubMed |
| Cataracts | A | β: 0.054 | 3E-9 | PubMed |
ClinVar Assertions (2)
NM_000372.5(TYR):c.[1205G>A;575C>A]
NM_000372.5(TYR):c.575C>A (p.Ser192Tyr)
Population Frequencies
gnomAD ALL
32.2%
1kG AFR
1.2%
1kG ALL
12.3%
1kG AMR
76.2%
1kG EAS
0.1%
1kG EUR
37.2%
1kG SAS
93.7%
Other Variants in TYR