Variant (rsID / SNP)

rs4343

rs4343 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ACE. Location: chromosome 17, position 61,566,031. Clinical significance in the table: Benign.

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Reference-table entries

ACEBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 17:61566031
Cytoband: 17q23.3
HGVS: NM_000789.4(ACE):c.2328G>A (p.Thr776=)
Allele change: Synonymous_T776T

Associated conditions / phenotypes

Renal tubular dysgenesis|Myocardial infarction, susceptibility to

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.