Gene entry
APOB
apolipoprotein B
- Chromosome
- 2
- Cytoband
- 2p24.1
- Variants (rsID)
- 115
APOB is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 2 (region 2p24.1). Its official name is “apolipoprotein B”. The reference table lists 115 variants (rsID) for this gene.
Clinically classified variants
65 reference-table entries with clinical significance.
- rs1042031Benignmissense_variantDiabetes Mellitus|Body Mass Index Quantitative Trait Locus 1|Hypercholesterolemia, Familial, 1|Familial Hypercholesterolemia|Lipoprotein Quantitative Trait Locus|Arteries, Anomalies of|Osteonecrosis|Lipid Metabolism Disorder|Heart Disease|Stroke, Ischemic|Coronary Heart Disease 1|Type 2 Diabetes Mellitus|Periodontitis|Hypertension, Essential|Taqi Polymorphism|Hypertriglyceridemia 1|Hypercholesterolemia, Familial, 3|Hypertriglyceridemia, Transient Infantile
- rs1042034Benignmissense_variantLipid Metabolism Disorder|Type 2 Diabetes Mellitus|Kidney Disease|Hepatitis C|Hepatitis C Virus|Hepatitis|Osteonecrosis|Stroke, Ischemic|Avascular Necrosis of Femoral Head, Primary, 1
- rs13306198Benignsingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypobetalipoproteinemia 1|Familial hypercholesterolemia|Hypercholesterolemia, autosomal dominant, type B|Hypercholesterolemia, autosomal dominant, type B|Familial hypobetalipoproteinemia 1
- rs679899Benignmissense_variantX-Linked Chondrodysplasia Punctata 2|Myocardial Infarction|Stroke, Ischemic|Mend Syndrome|Chronic Kidney Disease|Kidney Disease
- rs693Benignsingle nucleotide variantFamilial hypobetalipoproteinemia 1|Hypercholesterolemia, familial, 1|Familial hypercholesterolemia|Warfarin response|Hypercholesterolemia, autosomal dominant, type B|Familial hypobetalipoproteinemia 1|Hypercholesterolemia, autosomal dominant, type B
- rs72653099Benignsingle nucleotide variantFamilial hypercholesterolemia|Familial hypobetalipoproteinemia 1|Hypercholesterolemia, autosomal dominant, type B
- rs121918386Conflicting interpretationssingle nucleotide variantFamilial hypobetalipoproteinemia|Familial hypercholesterolemia|Familial hypobetalipoproteinemia 1|Hypercholesterolemia, autosomal dominant, type B
- rs121918390Conflicting interpretationssingle nucleotide variantFamilial hypobetalipoproteinemia|Familial hypobetalipoproteinemia 1|Familial hypercholesterolemia|Familial hypobetalipoproteinemia 1|Hypercholesterolemia, autosomal dominant, type B
- rs12713843Conflicting interpretationssingle nucleotide variantHypercholesterolemia, autosomal dominant, type B|Familial hypobetalipoproteinemia 1|Hypercholesterolemia, familial, 1|Familial hypercholesterolemia|Primary familial dilated cardiomyopathy|Familial hypobetalipoproteinemia 1|Hypercholesterolemia, autosomal dominant, type B
- rs142448733Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypobetalipoproteinemia 1|Familial hypercholesterolemia|Hypercholesterolemia, autosomal dominant, type B|Hypercholesterolemia, autosomal dominant, type B|Familial hypobetalipoproteinemia 1
- rs143282164Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia|Hypercholesterolemia, autosomal dominant, type B|Familial hypobetalipoproteinemia 1
- rs144467873Conflicting interpretationssingle nucleotide variantHypercholesterolemia, autosomal dominant, type B|Hypercholesterolemia, familial, 1|Familial hypercholesterolemia|Homozygous familial hypercholesterolemia|Familial hypobetalipoproteinemia 1|Hypercholesterolemia, autosomal dominant, type B|APOB-related disorder
- rs145142090Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia|Hypercholesterolemia, autosomal dominant, type B|Familial hypobetalipoproteinemia 1
- rs145777339Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypobetalipoproteinemia 1|Familial hypercholesterolemia|Hypercholesterolemia, autosomal dominant, type B|Hypercholesterolemia, autosomal dominant, type B|Familial hypobetalipoproteinemia 1
- rs151193347Conflicting interpretationssingle nucleotide variantFamilial hypobetalipoproteinemia|Hypercholesterolemia, familial, 1|Familial hypercholesterolemia|Hypercholesterolemia, autosomal dominant, type B|Familial hypobetalipoproteinemia 1
- rs1799812Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia|Hypercholesterolemia, autosomal dominant, type B|Familial hypobetalipoproteinemia 1|Hypercholesterolemia, autosomal dominant, type B|Familial hypobetalipoproteinemia 1
- rs1801698Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypobetalipoproteinemia 1|Familial hypercholesterolemia|Hypercholesterolemia, autosomal dominant, type B|Hypercholesterolemia, autosomal dominant, type B|Familial hypobetalipoproteinemia 1
- rs1801700Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypobetalipoproteinemia 1|Familial hypercholesterolemia|Hypercholesterolemia, autosomal dominant, type B|Hypercholesterolemia, autosomal dominant, type B|Familial hypobetalipoproteinemia 1
- rs186299244Conflicting interpretationssingle nucleotide variantFamilial hypobetalipoproteinemia 1|Hypercholesterolemia, familial, 1|Hypercholesterolemia, autosomal dominant, type B|Familial hypercholesterolemia|Hypercholesterolemia, autosomal dominant, type B|Familial hypobetalipoproteinemia 1
- rs199668351Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia|Hypercholesterolemia, autosomal dominant, type B|Familial hypobetalipoproteinemia 1
- rs2163204Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypobetalipoproteinemia 1|Familial hypercholesterolemia|Hypercholesterolemia, autosomal dominant, type B|Hypercholesterolemia, autosomal dominant, type B|Familial hypobetalipoproteinemia 1
- rs374251542Conflicting interpretationssingle nucleotide variantFamilial hypobetalipoproteinemia|Hypercholesterolemia, familial, 1|Familial hypercholesterolemia|Familial hypobetalipoproteinemia 1|Hypercholesterolemia, autosomal dominant, type B
- rs562574661Conflicting interpretationsMicrosatelliteHypercholesterolemia, familial, 1|Familial hypercholesterolemia|Hypercholesterolemia, autosomal dominant, type B|Hypercholesterolemia, autosomal dominant, type B|Familial hypobetalipoproteinemia 1
- rs587776852Conflicting interpretationsDeletionFamilial hypobetalipoproteinemia 1|Hypercholesterolemia, autosomal dominant, type B|Familial hypobetalipoproteinemia|Familial hypercholesterolemia
- rs72653071Conflicting interpretationssingle nucleotide variantFamilial hypobetalipoproteinemia 1|Hypercholesterolemia, familial, 1|Hypercholesterolemia, autosomal dominant, type B|Hypercholesterolemia, autosomal dominant, type B|Familial hypobetalipoproteinemia 1
- rs72653073Conflicting interpretationssingle nucleotide variantFamilial hypobetalipoproteinemia 1|Hypercholesterolemia, familial, 1|Hypercholesterolemia, autosomal dominant, type B|Hypercholesterolemia, autosomal dominant, type B|Familial hypobetalipoproteinemia 1
- rs72653093Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypobetalipoproteinemia 1|Familial hypercholesterolemia|Hypercholesterolemia, autosomal dominant, type B|Hypercholesterolemia, autosomal dominant, type B|Familial hypobetalipoproteinemia 1
- rs72653095Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Hypercholesterolemia, autosomal dominant, type B|Familial hypobetalipoproteinemia 1|Hypercholesterolemia, autosomal dominant, type B|Familial hypobetalipoproteinemia 1
- rs76202659Conflicting interpretationssingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypobetalipoproteinemia 1|Familial hypercholesterolemia|Hypercholesterolemia, autosomal dominant, type B|Hypercholesterolemia, autosomal dominant, type B|Familial hypobetalipoproteinemia 1
- rs121918384Likely benignDeletionFamilial hypobetalipoproteinemia|Familial hypercholesterolemia
- rs370481987Likely benignsingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia
- rs1057518647Likely pathogenicDeletionFamilial hypobetalipoproteinemia 1|Hypobetalipoproteinemia
- rs143301836Likely pathogenicsingle nucleotide variantHypobetalipoproteinemia|Familial hypobetalipoproteinemia 1
- rs730880052Likely pathogenicsingle nucleotide variantHypercholesterolemia, autosomal dominant, type B
- rs797045253Likely pathogenicDeletionHypobetalipoproteinemia
- rs121918383Pathogenicsingle nucleotide variantFamilial hypobetalipoproteinemia|Hypercholesterolemia, autosomal dominant, type B|Familial hypobetalipoproteinemia 1
- rs121918385PathogenicDeletionFamilial hypobetalipoproteinemia
- rs121918388Pathogenicsingle nucleotide variantFamilial hypobetalipoproteinemia 1
- rs121918389Pathogenicsingle nucleotide variantFamilial hypobetalipoproteinemia
- rs121918391Pathogenicsingle nucleotide variantFamilial hypobetalipoproteinemia 1|Familial hypobetalipoproteinemia 1|Hypercholesterolemia, autosomal dominant, type B
- rs1339117465Pathogenicsingle nucleotide variantHypercholesterolemia, familial, 1
- rs1382988295Pathogenicsingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypobetalipoproteinemia 1|Hypercholesterolemia, autosomal dominant, type B
- rs1399892057Pathogenicsingle nucleotide variantFamilial hypobetalipoproteinemia 1|Hypercholesterolemia, autosomal dominant, type B|Familial hypobetalipoproteinemia 1
- rs1442815965Pathogenicsingle nucleotide variantHypercholesterolemia, familial, 1
- rs281865425PathogenicDeletionFamilial hypobetalipoproteinemia|Familial hypobetalipoproteinemia 1|Hypercholesterolemia, autosomal dominant, type B
- rs387906569PathogenicDeletionFamilial hypobetalipoproteinemia
- rs397514255PathogenicDeletionFamilial hypobetalipoproteinemia
- rs397514256PathogenicDeletionFamilial hypobetalipoproteinemia
- rs5742904Pathogenicsingle nucleotide variantHypercholesterolemia, familial, 1
- rs606231236PathogenicDuplicationFamilial hypobetalipoproteinemia
- rs766243954Pathogenicsingle nucleotide variantFamilial hypobetalipoproteinemia 1|Familial hypobetalipoproteinemia 1|Hypercholesterolemia, autosomal dominant, type B
- rs878853970Pathogenicsingle nucleotide variantFamilial hypobetalipoproteinemia 1|Familial hypercholesterolemia|Familial hypobetalipoproteinemia 1|Hypercholesterolemia, autosomal dominant, type B
- rs878853973PathogenicDeletionFamilial hypobetalipoproteinemia 1|Familial hypobetalipoproteinemia 1|Hypercholesterolemia, autosomal dominant, type B
- rs886039829PathogenicDeletionHypercholesterolemia, familial, 1
- rs1418775778Uncertain significancesingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia
- rs143425834Uncertain significancesingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypobetalipoproteinemia|Familial hypercholesterolemia
- rs148502464Uncertain significancesingle nucleotide variantFamilial hypercholesterolemia|Familial hypobetalipoproteinemia 1
- rs180874451Uncertain significancesingle nucleotide variantFamilial hypobetalipoproteinemia 1|Hypercholesterolemia, autosomal dominant, type B
- rs183950016Uncertain significancesingle nucleotide variantFamilial hypercholesterolemia|Hypercholesterolemia, autosomal dominant, type B|Familial hypobetalipoproteinemia 1|Familial hypobetalipoproteinemia 1|Hypercholesterolemia, autosomal dominant, type B
- rs185224477Uncertain significancesingle nucleotide variantFamilial hypercholesterolemia
- rs187506285Uncertain significancesingle nucleotide variantFamilial hypercholesterolemia|Hypercholesterolemia, autosomal dominant, type B|Familial hypobetalipoproteinemia 1
- rs200184366Uncertain significancesingle nucleotide variantHypercholesterolemia, familial, 1
- rs201368319Uncertain significancesingle nucleotide variantHypercholesterolemia, autosomal dominant, type B|Familial hypobetalipoproteinemia 1|Familial hypercholesterolemia
- rs201736972Uncertain significancesingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia|Hypercholesterolemia, autosomal dominant, type B|Familial hypobetalipoproteinemia 1|Hypercholesterolemia, autosomal dominant, type B
- rs368278927Uncertain significancesingle nucleotide variantHypercholesterolemia, familial, 1|Familial hypercholesterolemia|Familial hypobetalipoproteinemia 1|Hypercholesterolemia, autosomal dominant, type B
Other listed variants
- rs512535
- rs533617
- rs673548
- rs676210
- rs1042023
- rs1367117
- rs1801695
- rs1801699
- rs1801701
- rs1801702
- rs1801703
- rs3791981
- rs6752026
- rs10199768
- rs11680233
- rs12691202
- rs12713450
- rs12713540
- rs12713559
- rs12713681
- rs12713844
- rs12713956
- rs12714192
- rs12714214
- rs12720796
- rs12720836
- rs12720854
- rs12720855
- rs13306194
- rs41288783
- rs61736761
- rs61744153
- rs72653074
- rs72653076
- rs72653077
- rs72653092
- rs113549125
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.