Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893891
rs104893891
0.800 GeneticVariation UNIPROT Pathogenesis of Hirschsprung's disease. 10917288

2000

dbSNP: rs121918536
rs121918536
0.800 GeneticVariation UNIPROT Pathogenesis of Hirschsprung's disease. 10917288

2000

dbSNP: rs104893891
rs104893891
0.800 GeneticVariation UNIPROT Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient. 8896568

1996

dbSNP: rs104893891
rs104893891
0.800 GeneticVariation UNIPROT De novo mutation of GDNF, ligand for the RET/GDNFR-alpha receptor complex, in Hirschsprung disease. 8968758

1996

dbSNP: rs104893891
rs104893891
0.800 GeneticVariation UNIPROT Germline mutations of the RET ligand GDNF are not sufficient to cause Hirschsprung disease. 8896569

1996

dbSNP: rs121918536
rs121918536
0.800 GeneticVariation UNIPROT Germline mutations of the RET ligand GDNF are not sufficient to cause Hirschsprung disease. 8896569

1996

dbSNP: rs121918536
rs121918536
0.800 GeneticVariation UNIPROT Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient. 8896568

1996

dbSNP: rs121918536
rs121918536
0.800 GeneticVariation UNIPROT De novo mutation of GDNF, ligand for the RET/GDNFR-alpha receptor complex, in Hirschsprung disease. 8968758

1996

dbSNP: rs104893891
rs104893891
A 0.800 SusceptibilityMutation CLINVAR

dbSNP: rs121918536
rs121918536
C 0.800 SusceptibilityMutation CLINVAR

dbSNP: rs36119840
rs36119840
0.700 GeneticVariation UNIPROT Pathogenesis of Hirschsprung's disease. 10917288

2000

dbSNP: rs777451569
rs777451569
0.700 GeneticVariation UNIPROT Pathogenesis of Hirschsprung's disease. 10917288

2000

dbSNP: rs36119840
rs36119840
0.700 GeneticVariation UNIPROT Germline mutations of the RET ligand GDNF are not sufficient to cause Hirschsprung disease. 8896569

1996

dbSNP: rs36119840
rs36119840
0.700 GeneticVariation UNIPROT De novo mutation of GDNF, ligand for the RET/GDNFR-alpha receptor complex, in Hirschsprung disease. 8968758

1996

dbSNP: rs36119840
rs36119840
0.700 GeneticVariation UNIPROT Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient. 8896568

1996

dbSNP: rs777451569
rs777451569
0.700 GeneticVariation UNIPROT De novo mutation of GDNF, ligand for the RET/GDNFR-alpha receptor complex, in Hirschsprung disease. 8968758

1996

dbSNP: rs777451569
rs777451569
0.700 GeneticVariation UNIPROT Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient. 8896568

1996

dbSNP: rs777451569
rs777451569
0.700 GeneticVariation UNIPROT Germline mutations of the RET ligand GDNF are not sufficient to cause Hirschsprung disease. 8896569

1996