Variant (rsID / SNP)
rs1042031
rs1042031 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to APOB. Location: chromosome 2, position 21,225,753. Clinical significance in the table: Benign/Likely_benign.
Reference-table entries
- Clinical significance (as recorded)
- Benign/Likely_benign
- Variant type
- missense_variant
- Chromosome / position
- 2:21225753
- HGVS
- NM_000384.3,c.12541G>A,p.Glu4181Lys
- Allele change
- Missense_E4181K
Associated conditions / phenotypes
Diabetes 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
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.