Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs146538906
rs146538906
EVC2
A 0.700 CausalMutation CLINVAR We identified a novel pattern of germinal compound heterozygous nonsense EVC2 mutations of c.1814C > A (p. S605X) and c.2653C > T (p. R885X), leading to the diagnosis of EVC syndrome. 26818569

2016
dbSNP: rs146538906
rs146538906
EVC2
A 0.700 CausalMutation CLINVAR Two novel heterozygous mutations of EVC2 cause a mild phenotype of Ellis-van Creveld syndrome in a Chinese family. 21815252

2011