Variant (rsID / SNP)

rs1800414

rs1800414 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to OCA2. Location: chromosome 15, position 28,197,037. Clinical significance in the table: Benign.

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Reference-table entries

OCA2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 15:28197037
Cytoband: 15q13.1
HGVS: NM_000275.3(OCA2):c.1844A>G (p.His615Arg)
Allele change: Missense_H591R

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.