Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs786205745
rs786205745
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C
CUI: C0039075
Disease:
Syndactyly
0.010 GeneticVariation BEFREE The proband with severe syndactyly and delayed language skills was identified harboring a G406R mutation in CACNA1C. 23580742 2013
dbSNP: rs79891110
rs79891110
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C
CUI: C0039075
Disease:
Syndactyly
0.010 GeneticVariation BEFREE The proband with severe syndactyly and delayed language skills was identified harboring a G406R mutation in CACNA1C. 23580742 2013