Variant (rsID / SNP)
rs12044663
rs12044663 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DBT. Location: chromosome 1, position 100,656,939. Clinical significance in the table: Benign.
Reference-table entries
DBTBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:100656939
- Cytoband
- 1p21.2
- HGVS
- NM_001918.5(DBT):c.*4872A>G
- Allele change
- Silent
Associated conditions / phenotypes
Maple syrup urine disease
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.