C7, complement C7, 730

N. diseases: 16; N. variants: 11
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121964920
rs121964920
Entrez Id: 730
Gene Symbol: C7
C7
CUI: C1864694
Disease:
Complement Component 7 Deficiency 		0.800 GeneticVariation UNIPROT Complement C7 deficiency: seven further molecular defects and their associated marker haplotypes. 9856499 1998
dbSNP: rs121964921
rs121964921
Entrez Id: 730
Gene Symbol: C7
C7
CUI: C1864694
Disease:
Complement Component 7 Deficiency 		0.800 GeneticVariation UNIPROT Complement C7 deficiency: seven further molecular defects and their associated marker haplotypes. 9856499 1998
dbSNP: rs121964920
rs121964920
Entrez Id: 730
Gene Symbol: C7
C7
CUI: C1864694
Disease:
Complement Component 7 Deficiency 		0.800 GeneticVariation UNIPROT Molecular bases of C7 deficiency: three different defects. 9218625 1997
dbSNP: rs121964921
rs121964921
Entrez Id: 730
Gene Symbol: C7
C7
CUI: C1864694
Disease:
Complement Component 7 Deficiency 		0.800 GeneticVariation UNIPROT Molecular bases of C7 deficiency: three different defects. 9218625 1997
dbSNP: rs121964920
rs121964920
Entrez Id: 730
Gene Symbol: C7
C7
CUI: C1864694
Disease:
Complement Component 7 Deficiency 		0.800 GeneticVariation UNIPROT Molecular bases of combined subtotal deficiencies of C6 and C7: their effects in combination with other C6 and C7 deficiencies. 8871666 1996
dbSNP: rs121964921
rs121964921
Entrez Id: 730
Gene Symbol: C7
C7
CUI: C1864694
Disease:
Complement Component 7 Deficiency 		0.800 GeneticVariation UNIPROT Molecular bases of combined subtotal deficiencies of C6 and C7: their effects in combination with other C6 and C7 deficiencies. 8871666 1996
dbSNP: rs121964920
rs121964920
Entrez Id: 730
Gene Symbol: C7
C7
CUI: C1864694
Disease:
Complement Component 7 Deficiency 		A 0.800 CausalMutation CLINVAR
dbSNP: rs121964921
rs121964921
Entrez Id: 730
Gene Symbol: C7
C7
CUI: C1864694
Disease:
Complement Component 7 Deficiency 		C 0.800 CausalMutation CLINVAR
dbSNP: rs74480769
rs74480769
Entrez Id: 730
Gene Symbol: C7
C7
CUI: C2985280
Disease:
Blood Protein Measurement 		A 0.700 GeneticVariation GWASCAT Co-regulatory networks of human serum proteins link genetics to disease. 30072576 2018
dbSNP: rs74480769
rs74480769
Entrez Id: 730
Gene Symbol: C7
C7
CUI: C2985280
Disease:
Blood Protein Measurement 		G 0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
dbSNP: rs531103546
rs531103546
Entrez Id: 730
Gene Symbol: C7
C7
CUI: C1864694
Disease:
Complement Component 7 Deficiency 		T 0.700 CausalMutation CLINVAR Two novel mutations in the C7 gene in a Korean patient with complement C7 deficiency. 15831990 2005
dbSNP: rs541873000
rs541873000
Entrez Id: 730
Gene Symbol: C7
C7
CUI: C1864694
Disease:
Complement Component 7 Deficiency 		0.700 GeneticVariation UNIPROT Complement C7 deficiency: seven further molecular defects and their associated marker haplotypes. 9856499 1998
dbSNP: rs541873000
rs541873000
Entrez Id: 730
Gene Symbol: C7
C7
CUI: C1864694
Disease:
Complement Component 7 Deficiency 		0.700 GeneticVariation UNIPROT Molecular bases of C7 deficiency: three different defects. 9218625 1997
dbSNP: rs541873000
rs541873000
Entrez Id: 730
Gene Symbol: C7
C7
CUI: C1864694
Disease:
Complement Component 7 Deficiency 		0.700 GeneticVariation UNIPROT Molecular bases of combined subtotal deficiencies of C6 and C7: their effects in combination with other C6 and C7 deficiencies. 8871666 1996
dbSNP: rs113187203
rs113187203
Entrez Id: 730
Gene Symbol: C7
C7
CUI: C1864694
Disease:
Complement Component 7 Deficiency 		0.700 GeneticVariation UNIPROT
dbSNP: rs121964920
rs121964920
Entrez Id: 730
Gene Symbol: C7
C7
CUI: C4017564
Disease:
C7 AND C6 DEFICIENCY, COMBINED SUBTOTAL 		A 0.700 CausalMutation CLINVAR
dbSNP: rs121964922
rs121964922
Entrez Id: 730
Gene Symbol: C7
C7
CUI: C1864694
Disease:
Complement Component 7 Deficiency 		A 0.700 CausalMutation CLINVAR
dbSNP: rs369349760
rs369349760
Entrez Id: 730
Gene Symbol: C7
C7
CUI: C1864694
Disease:
Complement Component 7 Deficiency 		0.700 GeneticVariation UNIPROT
dbSNP: rs387906509
rs387906509
Entrez Id: 730
Gene Symbol: C7
C7
CUI: C1864694
Disease:
Complement Component 7 Deficiency 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1063499
rs1063499
Entrez Id: 730
Gene Symbol: C7
C7
CUI: C0019196
Disease:
Hepatitis C 		0.010 GeneticVariation BEFREE This study aimed to investigate the existence of the association of a polymorphism in the C7 gene, rs1063499, with hepatic fibrosis and the occurrence of hepatocellular carcinoma (HCC) in patients with hepatitis C. We analyzed 456 samples from patients with chronic hepatitis C. Real-time PCR was used for allelic discrimination. 29966690 2018
dbSNP: rs1063499
rs1063499
Entrez Id: 730
Gene Symbol: C7
C7
CUI: C2239176
Disease:
Liver carcinoma 		0.010 GeneticVariation BEFREE This study aimed to investigate the existence of the association of a polymorphism in the C7 gene, rs1063499, with hepatic fibrosis and the occurrence of hepatocellular carcinoma (HCC) in patients with hepatitis C. We analyzed 456 samples from patients with chronic hepatitis C. Real-time PCR was used for allelic discrimination. 29966690 2018
dbSNP: rs6876739
rs6876739
Entrez Id: 730
Gene Symbol: C7
C7
CUI: C0004623
Disease:
Bacterial Infections 		0.010 GeneticVariation BEFREE Using expression quantitative trait loci (eQTL) analysis, we found that the C7 rs6876739 CC genotypes and mannan-binding lectin (MBL2) gene polymorphisms of liver donors were significantly associated with bacterial infection in recipients. 27063552 2016
dbSNP: rs121964921
rs121964921
Entrez Id: 730
Gene Symbol: C7
C7
CUI: C0025303
Disease:
Meningococcal Infections 		0.010 GeneticVariation BEFREE The missense mutation G357R would make an interesting topic of analysis with regard to meningococcal disease susceptibility in the Spanish population. 12869030 2003