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Variant (rsID / SNP)

rs121918166

OCA2

rs121918166 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to OCA2. Location: chromosome 15, position 28,230,247. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

OCA2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
15:28230247
Cytoband
15q13.1
HGVS
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile)
Allele change
Missense_V419I

Associated conditions / phenotypes

Tyrosinase-positive oculocutaneous albinism|Skin/hair/eye pigmentation, variation in, 1|Tyrosinase-positive oculocutaneous albinism|Inborn genetic diseases|See cases

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.