Variant (rsID / SNP)

rs104894033

rs104894033 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to OPN1SW. Location: chromosome 7, position 128,413,840. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

OPN1SWPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 7:128413840
Cytoband: 7q32.1
HGVS: NM_001708.2(OPN1SW):c.790C>T (p.Pro264Ser)
Allele change: Missense_P264S

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.