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Variant (rsID / SNP)

rs368124046

OCA2

rs368124046 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to OCA2. Location: chromosome 15, position 28,228,486. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

OCA2Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
15:28228486
Cytoband
15q13.1
HGVS
NM_000275.3(OCA2):c.1503+5G>A
Allele change
Silent

Associated conditions / phenotypes

Tyrosinase-positive oculocutaneous albinism|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.