CCDC8, coiled-coil domain containing 8, 83987

N. diseases: 98; N. variants: 3
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1568590155
rs1568590155
Entrez Id: 83987
Gene Symbol: CCDC8
CCDC8
CUI: C3280146
Disease:
THREE M SYNDROME 3 		TA 0.700 CausalMutation CLINVAR
dbSNP: rs752254407
rs752254407
Entrez Id: 83987
Gene Symbol: CCDC8
CCDC8
CUI: C3280146
Disease:
THREE M SYNDROME 3 		TC 0.700 CausalMutation CLINVAR
dbSNP: rs947996134
rs947996134
Entrez Id: 83987
Gene Symbol: CCDC8
CCDC8
CUI: C0024121
Disease:
Lung Neoplasms 		0.010 GeneticVariation BEFREE Mutant Ki-ras(G12C) expression was sufficient for initial lung tumor transformation, required for maintenance of tumor phenotype, and induced transformation of lung epithelial cells by the activation of multiple effector pathways. 16051643 2005