Variant (rsID / SNP)
rs121918536
rs121918536 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GDNF. Location: chromosome 5, position 37,815,756. Clinical significance in the table: risk factor.
Reference-table entries
GDNFRisk factor
- Clinical significance (as recorded)
- risk factor
- Variant type
- single nucleotide variant
- Chromosome / position
- 5:37815756
- Cytoband
- 5p13.2
- HGVS
- NM_000514.4(GDNF):c.633C>G (p.Ile211Met)
- Allele change
- Missense_I159M
Associated conditions / phenotypes
Hirschsprung disease, susceptibility to, 3
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.