Variant (rsID / SNP)

rs3741050

rs3741050 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ACAT1. Location: chromosome 11, position 108,009,621. Clinical significance in the table: Benign.

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Reference-table entries

ACAT1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 11:108009621
Cytoband: 11q22.3
HGVS: NM_000019.4(ACAT1):c.436-4G>A
Allele change: Silent

Associated conditions / phenotypes

Deficiency of acetyl-CoA acetyltransferase

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.