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: 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
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