Variant (rsID / SNP)

rs1418775778

rs1418775778 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to APOB. Location: chromosome 2, position 21,229,016. Clinical significance in the table: Uncertain significance.

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Reference-table entries

APOBUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 2:21229016
Cytoband: 2p24.1
HGVS: NM_000384.3(APOB):c.10724G>A (p.Gly3575Asp)
Allele change: Missense_G3575D

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.