Disease: Ellis-Van Creveld Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs770155116
rs770155116
Entrez Id: 51626
Gene Symbol: DYNC2LI1
DYNC2LI1
CUI: C0013903
Disease:
Ellis-Van Creveld Syndrome 		0.010 GeneticVariation BEFREE Targeted resequencing detected compound heterozygosity for the same missense variant and a truncating change (p.Val141*) in 2 siblings with EvC from a second family, while a newborn with a more severe phenotype carried 2 DYNC2LI1 truncating variants. 28857138 2018