Variant (rsID / SNP)

rs121912718

rs121912718 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to APOA1. Location: chromosome 11, position 116,706,850. Clinical significance in the table: Pathogenic.

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Reference-table entries

APOA1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 11:116706850
Cytoband: 11q23.3
HGVS: NM_000039.3(APOA1):c.478G>A (p.Glu160Lys)
Allele change: Missense_E160K

Associated conditions / phenotypes

APOLIPOPROTEIN A-I (NORWAY)

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.