Variant (rsID / SNP)

rs201160433

rs201160433 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCA4. Location: chromosome 1, position 94,458,738. Clinical significance in the table: Likely benign.

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Reference-table entries

ABCA4Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 1:94458738
Cytoband: 1p22.1
HGVS: NM_000350.3(ABCA4):c.*55G>T
Allele change: Silent

Associated conditions / phenotypes

Cone-Rod Dystrophy, Recessive|Retinitis Pigmentosa, Recessive|Macular degeneration|Stargardt Disease, Recessive|ABCA4-Related Disorders

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.