Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs77316810
rs77316810
RET
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		G 0.760 CausalMutation CLINVAR Novel germline RET proto-oncogene mutations associated with medullary thyroid carcinoma (MTC): mutation analysis in Japanese patients with MTC. 9223675

1997
dbSNP: rs77316810
rs77316810
RET
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		C 0.760 CausalMutation CLINVAR The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. International RET mutation consortium analysis. 8918855

1996
dbSNP: rs77316810
rs77316810
RET
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		C 0.760 CausalMutation CLINVAR Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease. 7633441

1995
dbSNP: rs77316810
rs77316810
RET
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		C 0.760 CausalMutation CLINVAR RET proto-oncogene mutations in French MEN 2A and FMTC families. 7874109

1994
dbSNP: rs77316810
rs77316810
RET
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		C 0.760 CausalMutation CLINVAR Diverse phenotypes associated with exon 10 mutations of the RET proto-oncogene. 7881414

1994
dbSNP: rs77316810
rs77316810
RET
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		C 0.760 GeneticVariation CLINVAR