Variant (rsID / SNP)

rs2303790

rs2303790 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CETP. Location: chromosome 16, position 57,017,292. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CETPConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 16:57017292
Cytoband: 16q13
HGVS: NM_000078.3(CETP):c.1376A>G (p.Asp459Gly)
Allele change: Missense_D399G

Associated conditions / phenotypes

Hyperalphalipoproteinemia 1

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.