Variant (rsID / SNP)

rs9905402

rs9905402 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GUCY2D. Location: chromosome 17, position 7,906,426. Clinical significance in the table: Benign.

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Reference-table entries

GUCY2DBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 17:7906426
Cytoband: 17p13.1
HGVS: NM_000180.4(GUCY2D):c.61T>C (p.Trp21Arg)
Allele change: Missense_W21R

Associated conditions / phenotypes

Cone-rod dystrophy 6|Leber congenital amaurosis 1

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.