Variant (rsID / SNP)
rs7043029
rs7043029 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BAAT. Location: chromosome 9, position 104,123,762. Clinical significance in the table: Benign.
Reference-table entries
BAATBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 9:104123762
- Cytoband
- 9q31.1
- HGVS
- NM_001701.4(BAAT):c.*948C>A
- Allele change
- Silent
Associated conditions / phenotypes
Hypercholanemia, familial 1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.