Variant (rsID / SNP)

rs3738766

rs3738766 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GNAT2. Location: chromosome 1, position 110,151,395. Clinical significance in the table: Benign.

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Reference-table entries

GNAT2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 1:110151395
Cytoband: 1p13.3
HGVS: NM_001377295.2(GNAT2):c.319C>A (p.Leu107Ile)
Allele change: Missense_L107I

Associated conditions / phenotypes

Achromatopsia 4

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.