Variant (rsID / SNP)
rs1800497
rs1800497 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ANKK1. Location: chromosome 11, position 113,270,828. Clinical significance in the table: Benign.
Reference-table entries
ANKK1Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:113270828
- Cytoband
- 11q23.2
- HGVS
- NM_178510.2(ANKK1):c.2137G>A (p.Glu713Lys)
- Allele change
- Missense_E713K
Associated conditions / phenotypes
Dopamine receptor d2, reduced brain density of
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.