Variant (rsID / SNP)

rs36119840

rs36119840 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GDNF. Location: chromosome 5, position 37,816,112. Clinical significance in the table: Likely benign.

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Reference-table entries

GDNFLikely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 5:37816112
Cytoband: 5p13.2
HGVS: NM_000514.4(GDNF):c.277C>T (p.Arg93Trp)
Allele change: Missense_R41W

Associated conditions / phenotypes

Hirschsprung disease, susceptibility to, 3

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.