Variant (rsID / SNP)
rs78613670
rs78613670 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GDNF. Location: chromosome 5, position 37,814,364. Clinical significance in the table: Benign.
Reference-table entries
GDNFBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 5:37814364
- Cytoband
- 5p13.2
- HGVS
- NM_000514.4(GDNF):c.*1389A>G
- Allele change
- Silent
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.