Variant (rsID / SNP)

rs137956605

rs137956605 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to OCA2. Location: chromosome 15, position 28,234,776. 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: 15:28234776
Cytoband: 15q13.1
HGVS: NM_000275.3(OCA2):c.1153T>A (p.Phe385Ile)
Allele change: Missense_F361I

Associated conditions / phenotypes

Tyrosinase-positive oculocutaneous albinism

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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