C8B, complement C8 beta chain, 732

N. diseases: 17; N. variants: 16
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1013579
rs1013579
Entrez Id: 732
Gene Symbol: C8B
C8B
CUI: C2985280
Disease:
Blood Protein Measurement 		T 0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
dbSNP: rs12085435
rs12085435
Entrez Id: 732
Gene Symbol: C8B
C8B
CUI: C2985280
Disease:
Blood Protein Measurement 		A 0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
dbSNP: rs12092641
rs12092641
Entrez Id: 732
Gene Symbol: C8B
C8B
CUI: C2985280
Disease:
Blood Protein Measurement 		C 0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
dbSNP: rs3216676
rs3216676
Entrez Id: 732
Gene Symbol: C8B
C8B
CUI: C2985280
Disease:
Blood Protein Measurement 		GA 0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
dbSNP: rs41452950
rs41452950
Entrez Id: 732
Gene Symbol: C8B
C8B
CUI: C2985280
Disease:
Blood Protein Measurement 		G 0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
dbSNP: rs612563
rs612563
Entrez Id: 732
Gene Symbol: C8B
C8B
CUI: C2985280
Disease:
Blood Protein Measurement 		C 0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
dbSNP: rs618184
rs618184
Entrez Id: 732
Gene Symbol: C8B
C8B
CUI: C2985280
Disease:
Blood Protein Measurement 		G 0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
dbSNP: rs684782
rs684782
Entrez Id: 732
Gene Symbol: C8B
C8B
CUI: C2985280
Disease:
Blood Protein Measurement 		T 0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
dbSNP: rs78501968
rs78501968
Entrez Id: 732;105378745
Gene Symbol: C8B;LOC105378745
C8B;LOC105378745
CUI: C2985280
Disease:
Blood Protein Measurement 		A 0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
dbSNP: rs146187042
rs146187042
Entrez Id: 732
Gene Symbol: C8B
C8B
CUI: C2676232
Disease:
Complement Component 6 Deficiency 		A 0.700 CausalMutation CLINVAR A novel mutation in a patient with a deficiency of the eighth component of complement associated with recurrent meningococcal meningitis. 19434484 2009
dbSNP: rs146187042
rs146187042
Entrez Id: 732
Gene Symbol: C8B
C8B
CUI: C2676232
Disease:
Complement Component 6 Deficiency 		A 0.700 CausalMutation CLINVAR [Further study on heterogeneic basis of complement C8 beta deficiency]. 14767900 2004
dbSNP: rs146187042
rs146187042
Entrez Id: 732
Gene Symbol: C8B
C8B
CUI: C2676232
Disease:
Complement Component 6 Deficiency 		A 0.700 CausalMutation CLINVAR Delineation of additional genetic bases for C8 beta deficiency. Prevalence of null alleles and predominance of C-->T transition in their genesis. 7594510 1995
dbSNP: rs41286844
rs41286844
Entrez Id: 732
Gene Symbol: C8B
C8B
CUI: C2676232
Disease:
Complement Component 6 Deficiency 		A 0.700 CausalMutation CLINVAR Delineation of additional genetic bases for C8 beta deficiency. Prevalence of null alleles and predominance of C-->T transition in their genesis. 7594510 1995
dbSNP: rs41286844
rs41286844
Entrez Id: 732
Gene Symbol: C8B
C8B
CUI: C2676232
Disease:
Complement Component 6 Deficiency 		A 0.700 CausalMutation CLINVAR Genetic basis of human complement C8 beta deficiency. 8098723 1993
dbSNP: rs140813121
rs140813121
Entrez Id: 732
Gene Symbol: C8B
C8B
CUI: C3151080
Disease:
COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II 		A 0.700 CausalMutation CLINVAR
dbSNP: rs146187042
rs146187042
Entrez Id: 732
Gene Symbol: C8B
C8B
CUI: C3151080
Disease:
COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II 		A 0.700 CausalMutation CLINVAR
dbSNP: rs150022116
rs150022116
Entrez Id: 732
Gene Symbol: C8B
C8B
CUI: C3151080
Disease:
COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II 		A 0.700 CausalMutation CLINVAR
dbSNP: rs372968576
rs372968576
Entrez Id: 732
Gene Symbol: C8B
C8B
CUI: C3151080
Disease:
COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II 		T 0.700 CausalMutation CLINVAR
dbSNP: rs398122867
rs398122867
Entrez Id: 732
Gene Symbol: C8B
C8B
CUI: C3151080
Disease:
COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II 		C 0.700 CausalMutation CLINVAR
dbSNP: rs398122868
rs398122868
Entrez Id: 732
Gene Symbol: C8B
C8B
CUI: C3151080
Disease:
COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II 		GCACAGCC 0.700 CausalMutation CLINVAR
dbSNP: rs41286844
rs41286844
Entrez Id: 732
Gene Symbol: C8B
C8B
CUI: C3151080
Disease:
COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II 		A 0.700 CausalMutation CLINVAR
dbSNP: rs12085435
rs12085435
Entrez Id: 732
Gene Symbol: C8B
C8B
CUI: C3873491
Disease:
Invasive meningococcal disease 		0.010 GeneticVariation BEFREE The association between C8B rs12085435 and IMD requires independent replication. 25798599 2015