Variant (rsID / SNP)

rs1800407

rs1800407 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to OCA2. Location: chromosome 15, position 28,230,318. 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: 15:28230318
Cytoband: 15q13.1
HGVS: NM_000275.3(OCA2):c.1256G>A (p.Arg419Gln)
Allele change: Missense_R395Q

Associated conditions / phenotypes

Skin/hair/eye pigmentation, variation in, 1|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.