Variant (rsID / SNP)
rs3816183
rs3816183 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HAAO. Location: chromosome 2, position 43,015,719. The table records no clinical significance for this variant.
Reference-table entries
HAAONot classified
- Variant type
- missense_variant
- Chromosome / position
- 2:43015719
- HGVS
- NM_012205.3,c.109A>G,p.Ile37Val
- Allele change
- Missense_I37V
Associated conditions / phenotypes
Hypospadias
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.