Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs74315384
rs74315384
EDN3
0.800 GeneticVariation UNIPROT SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanism. 12189494

2002
dbSNP: rs74315384
rs74315384
EDN3
0.800 GeneticVariation UNIPROT A heterozygous endothelin 3 mutation in Waardenburg-Hirschsprung disease: is there a dosage effect of EDN3/EDNRB gene mutations on neurocristopathy phenotypes? 11303518

2001
dbSNP: rs74315384
rs74315384
EDN3
0.800 GeneticVariation UNIPROT A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome). 8630503

1996
dbSNP: rs74315384
rs74315384
EDN3
T 0.800 CausalMutation CLINVAR