Variant (rsID / SNP)

rs370481987

rs370481987 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to APOB. Location: chromosome 2, position 21,228,932. Clinical significance in the table: Likely benign.

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Reference-table entries

APOBLikely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 2:21228932
Cytoband: 2p24.1
HGVS: NM_000384.3(APOB):c.10808A>G (p.His3603Arg)
Allele change: Missense_H3603R

Associated conditions / phenotypes

Hypercholesterolemia, familial, 1|Familial hypercholesterolemia

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.