Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777233
rs587777233
EDN1
CUI: C2748545
Disease: QUESTION MARK EARS, ISOLATED
QUESTION MARK EARS, ISOLATED 		0.800 GeneticVariation UNIPROT Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears. 24268655

2013
dbSNP: rs587777233
rs587777233
EDN1
CUI: C2748545
Disease: QUESTION MARK EARS, ISOLATED
QUESTION MARK EARS, ISOLATED 		A 0.800 CausalMutation CLINVAR

dbSNP: rs587777234
rs587777234
EDN1
CUI: C2748545
Disease: QUESTION MARK EARS, ISOLATED
QUESTION MARK EARS, ISOLATED 		G 0.700 CausalMutation CLINVAR