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Variant (rsID / SNP)

rs121918169

OCA2

rs121918169 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to OCA2. Location: chromosome 15, position 28,171,315. 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
15:28171315
Cytoband
15q13.1
HGVS
NM_000275.3(OCA2):c.2037G>C (p.Trp679Cys)
Allele change
Missense_W655C

Associated conditions / phenotypes

Tyrosinase-positive oculocutaneous albinism|Skin/hair/eye pigmentation, variation in, 1

Public references

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