Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs751356206
rs751356206
EVC2
A 0.700 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
dbSNP: rs751356206
rs751356206
EVC2
A 0.700 GeneticVariation CLINVAR Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients. 17024374

2007
dbSNP: rs751356206
rs751356206
EVC2
A 0.700 CausalMutation CLINVAR