rs756096100, EVC2

N. diseases: 1
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Congenital small ears
CUI: C0152423
Disease: Congenital small ears
0.010 GeneticVariation BEFREE Of note, we identified one EVC2 non-synonymous mutation (p.Asp1174Asn) as a potential disease-implicating variant for a human microtia-associated syndrome. 26035869 2015