Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2435357
rs2435357
RET
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease
C 0.900 SusceptibilityMutation CLINVAR

dbSNP: rs2435357
rs2435357
RET
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
C 0.700 SusceptibilityMutation CLINVAR