Variant (rsID / SNP)

rs683

rs683 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TYRP1. Location: chromosome 9, position 12,709,305. Clinical significance in the table: Benign.

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Reference-table entries

TYRP1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 9:12709305
Cytoband: 9p23
HGVS: NM_000550.3(TYRP1):c.*123C>A
Allele change: Silent

Associated conditions / phenotypes

Oculocutaneous albinism type 3

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.