C6, complement C6, 729

N. diseases: 29; N. variants: 6
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61469168
rs61469168
Entrez Id: 729;105374739
Gene Symbol: C6;LOC105374739
C6;LOC105374739
CUI: C2676232
Disease:
Complement Component 6 Deficiency
T 0.700 CausalMutation CLINVAR Complete deficiency of the sixth complement component (C6Q0), susceptibility to Neisseria meningitidis infections and analysis of the frequencies of C6Q0 gene defects in South Africans. 22288589 2012
dbSNP: rs61469168
rs61469168
Entrez Id: 729;105374739
Gene Symbol: C6;LOC105374739
C6;LOC105374739
CUI: C2676232
Disease:
Complement Component 6 Deficiency
T 0.700 CausalMutation CLINVAR Restricted genetic defects underlie human complement C6 deficiency. 12653841 2003
dbSNP: rs61469168
rs61469168
Entrez Id: 729;105374739
Gene Symbol: C6;LOC105374739
C6;LOC105374739
CUI: C2676232
Disease:
Complement Component 6 Deficiency
T 0.700 CausalMutation CLINVAR The molecular basis of C6 deficiency in the western Cape, South Africa. 9856498 1998
dbSNP: rs61469168
rs61469168
Entrez Id: 729;105374739
Gene Symbol: C6;LOC105374739
C6;LOC105374739
CUI: C2676232
Disease:
Complement Component 6 Deficiency
T 0.700 CausalMutation CLINVAR Molecular defects leading to human complement component C6 deficiency in an African-American family. 9472666 1998
dbSNP: rs61469168
rs61469168
Entrez Id: 729;105374739
Gene Symbol: C6;LOC105374739
C6;LOC105374739
CUI: C2676232
Disease:
Complement Component 6 Deficiency
T 0.700 CausalMutation CLINVAR Molecular bases for inherited human complement component C6 deficiency in two unrelated individuals. 8690922 1996
dbSNP: rs142881576
rs142881576
Entrez Id: 729;105374739
Gene Symbol: C6;LOC105374739
C6;LOC105374739
CUI: C2676232
Disease:
Complement Component 6 Deficiency
A 0.700 GeneticVariation CLINVAR
dbSNP: rs398122811
rs398122811
Entrez Id: 729
Gene Symbol: C6
C6
CUI: C2676232
Disease:
Complement Component 6 Deficiency
T 0.700 CausalMutation CLINVAR
dbSNP: rs9200
rs9200
Entrez Id: 729;105374739
Gene Symbol: C6;LOC105374739
C6;LOC105374739
CUI: C2239176
Disease:
Liver carcinoma
0.020 GeneticVariation BEFREE Recipient C6 gene rs9200 polymorphism and donor C6 gene rs10052999 polymorphism are new genetic loci that affect tacrolimus metabolism in patients with HCC after OLT. 28685716 2017
dbSNP: rs9200
rs9200
Entrez Id: 729;105374739
Gene Symbol: C6;LOC105374739
C6;LOC105374739
CUI: C2239176
Disease:
Liver carcinoma
0.020 GeneticVariation BEFREE In conclusion, recipient C6 rs9200 polymorphism is associated with HCC recurrence after OLT, and improves the predictive value of clinical models. 27173880 2016
dbSNP: rs10052999
rs10052999
Entrez Id: 729
Gene Symbol: C6
C6
CUI: C2239176
Disease:
Liver carcinoma
0.010 GeneticVariation BEFREE Recipient C6 gene rs9200 polymorphism and donor C6 gene rs10052999 polymorphism are new genetic loci that affect tacrolimus metabolism in patients with HCC after OLT. 28685716 2017
dbSNP: rs9200
rs9200
Entrez Id: 729;105374739
Gene Symbol: C6;LOC105374739
C6;LOC105374739
CUI: C0027651
Disease:
Neoplasms
0.010 GeneticVariation BEFREE Patients with the rs9200 heterozygous GA variant presented significantly higher HCC recurrence rates (54.17 vs 27.66%, P=0.028), and lower cumulative tumor-free survival and overall survival (P=0.006 and P=0.013, respectively) compared with those harboring the GG/AA genotype, in multivariate logistic regression and Cox regression analyses. 27173880 2016
dbSNP: rs4400166
rs4400166
Entrez Id: 729
Gene Symbol: C6
C6
CUI: C1956346
Disease:
Coronary Artery Disease
0.010 GeneticVariation BEFREE Significant association was identified between rs7842 and CAD (P=3.99×10(-6); odds ratio, 1.47) and between rs4400166 and CAD (P=9.30×10(-3); odds ratio, 1.24) in the validation cohort. 25249547 2014