Variant (rsID / SNP)
rs5219
rs5219 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCC8, KCNJ11. Location: chromosome 11, position 17,409,572. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:17409572
- Cytoband
- 11p15.1
- HGVS
- NM_000525.4(KCNJ11):c.67A>G (p.Lys23Glu)
- Allele change
- Silent
Associated conditions / phenotypes
Exercise stress response, impaired, association with|Diabetes mellitus type 2, susceptibility to|Permanent neonatal diabetes mellitus|Hyperinsulinism, Dominant/Recessive|Transient Neonatal Diabetes, Dominant|Maturity onset diabetes mellitus in young|Hyperinsulinemic hypoglycemia, familial, 2|Diabetes mellitus, transient neonatal, 3|Maturity-onset diabetes of the young type 13|Type 2 diabetes mellitus
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.