Variant (rsID / SNP)

rs147118493

rs147118493 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CNGA3. Location: chromosome 2, position 98,986,540. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CNGA3Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 2:98986540
Cytoband: 2q11.2
HGVS: NM_001298.3(CNGA3):c.101+1G>A
Allele change: Silent

Associated conditions / phenotypes

Achromatopsia 2|Cone-rod dystrophy

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.