Variant (rsID / SNP)
rs1799805
rs1799805 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ACHE. Location: chromosome 7, position 100,490,797. Clinical significance in the table: Benign.
Reference-table entries
ACHEBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:100490797
- Cytoband
- 7q22.1
- HGVS
- NM_000665.5(ACHE):c.1057C>A (p.His353Asn)
- Allele change
- Missense_H353N
Associated conditions / phenotypes
YT BLOOD GROUP POLYMORPHISM
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.