Variant (rsID / SNP)

rs104894032

rs104894032 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to OPN1SW. Location: chromosome 7, position 128,414,599. Clinical significance in the table: Pathogenic.

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Reference-table entries

OPN1SWPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 7:128414599
Cytoband: 7q32.1
HGVS: NM_001708.2(OPN1SW):c.640T>C (p.Ser214Pro)
Allele change: Missense_S214P

Associated conditions / phenotypes

Blue color blindness

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.