Variant (rsID / SNP)

rs689

rs689 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TH, INS-IGF2, INS. Location: chromosome 11, position 2,182,224. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

THBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 11:2182224
Cytoband: 11p15.5
HGVS: NM_000207.3(INS):c.-17-6T>A
Allele change: Silent

Associated conditions / phenotypes

Transient Neonatal Diabetes, Dominant/Recessive|Autosomal recessive DOPA responsive dystonia|Maturity onset diabetes mellitus in young|Maturity-onset diabetes of the young type 10

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.