Variant (rsID / SNP)
rs2259816
rs2259816 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to C12ORF43, C12orf43, HNF1A. Location: chromosome 12, position 121,435,587. Clinical significance in the table: Benign.
Reference-table entries
- Clinical significance (as recorded)
- Benign
- Variant type
- downstream_gene_variant
- Chromosome / position
- 12:121435587
- HGVS
- NM_001286191.2,c.*6369C>A
- Allele change
- Silent
Associated conditions / phenotypes
Lipoprotein Quantitative Trait Locus|Arteries, Anomalies of|Coronary Heart Disease 1|Body Mass Index Quantitative Trait Locus 11|Heart Disease|Body Mass Index Quantitative Trait Locus 18|Body Mass Index Quantitative Trait Locus 19|Myocardial Infarction|Body Mass Index Quantitative Trait Locus 10|Body Mass Index Quantitative Trait Locus 7|Body Mass Index Quantitative Trait Locus 4|Body Mass Index Quantitative Trait Locus 12|Body Mass Index Quantitative Trait Locus 14|Microvascular Complications of Diabetes 6|Microvascular Complications of Diabetes 4|Microvascular Complications of Diabetes 3|Microvascular Complications of Diabetes 7|Body Mass Index Quantitative Trait Locus 9
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.