Variant: rs104893891 

    present in Gene: GDNF-AS1;GDNF
    present in Chromosome: 5
    Position on Chromosome: 37815827
    Alleles of this Variant: T/A;C

rs104893891 in GDNF-AS1;GDNF gene and HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3 PMID 8968758 1996 De novo mutation of GDNF, ligand for the RET/GDNFR-alpha receptor complex, in Hirschsprung disease.

PMID 10917288 2000 Pathogenesis of Hirschsprung's disease.

PMID 8896569 1996 Germline mutations of the RET ligand GDNF are not sufficient to cause Hirschsprung disease.

PMID 8896568 1996 Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient.