COQ8B, coenzyme Q8B, 79934

N. diseases: 23; N. variants: 15
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113358395
rs113358395
Entrez Id: 79934
Gene Symbol: COQ8B
COQ8B
CUI: C0003486
Disease:
Aortic Aneurysm 		0.010 GeneticVariation BEFREE A rare missense variant in ADCK4 (p.Arg63Trp) segregated with mild TAA in each family. 28550590 2017
dbSNP: rs28493229
rs28493229
Entrez Id: 79934;80271
Gene Symbol: COQ8B;ITPKC
COQ8B;ITPKC
CUI: C0279671
Disease:
Cervical Squamous Cell Carcinoma 		0.010 GeneticVariation BEFREE In conclusion, we found the G/G genotype and G allele of the ITPKC rs28493229 polymorphism may contribute to the risk of CSCC in Taiwanese women. 22610085 2012
dbSNP: rs2561530
rs2561530
Entrez Id: 79934;80271
Gene Symbol: COQ8B;ITPKC
COQ8B;ITPKC
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs4803358
rs4803358
Entrez Id: 79934
Gene Symbol: COQ8B
COQ8B
CUI: C0023508
Disease:
White Blood Cell Count procedure 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs1057519345
rs1057519345
Entrez Id: 79934
Gene Symbol: COQ8B
COQ8B
CUI: C3809965
Disease:
NEPHROTIC SYNDROME, TYPE 9 		T 0.700 CausalMutation CLINVAR ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption. 24270420 2013
dbSNP: rs1057519346
rs1057519346
Entrez Id: 79934
Gene Symbol: COQ8B
COQ8B
CUI: C3809965
Disease:
NEPHROTIC SYNDROME, TYPE 9 		TGTC 0.700 CausalMutation CLINVAR ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption. 24270420 2013
dbSNP: rs398122980
rs398122980
Entrez Id: 9253;79934
Gene Symbol: NUMBL;COQ8B
NUMBL;COQ8B
CUI: C3809965
Disease:
NEPHROTIC SYNDROME, TYPE 9 		A 0.700 CausalMutation CLINVAR ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption. 24270420 2013
dbSNP: rs398122982
rs398122982
Entrez Id: 79934
Gene Symbol: COQ8B
COQ8B
CUI: C3809965
Disease:
NEPHROTIC SYNDROME, TYPE 9 		AT 0.700 CausalMutation CLINVAR ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption. 24270420 2013
dbSNP: rs398122983
rs398122983
Entrez Id: 9253;79934
Gene Symbol: NUMBL;COQ8B
NUMBL;COQ8B
CUI: C3809965
Disease:
NEPHROTIC SYNDROME, TYPE 9 		A 0.700 CausalMutation CLINVAR ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption. 24270420 2013
dbSNP: rs764587648
rs764587648
Entrez Id: 79934
Gene Symbol: COQ8B
COQ8B
CUI: C3809965
Disease:
NEPHROTIC SYNDROME, TYPE 9 		C 0.700 CausalMutation CLINVAR ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption. 24270420 2013
dbSNP: rs28493229
rs28493229
Entrez Id: 79934;80271
Gene Symbol: COQ8B;ITPKC
COQ8B;ITPKC
CUI: C4016969
Disease:
KAWASAKI DISEASE, SUSCEPTIBILITY TO 		C 0.700 SusceptibilityMutation CLINVAR
dbSNP: rs369573693
rs369573693
Entrez Id: 79934
Gene Symbol: COQ8B
COQ8B
CUI: C3809965
Disease:
NEPHROTIC SYNDROME, TYPE 9 		0.800 GeneticVariation UNIPROT ADCK4-Associated Glomerulopathy Causes Adolescence-Onset FSGS. 25967120 2016
dbSNP: rs398122978
rs398122978
Entrez Id: 79934
Gene Symbol: COQ8B
COQ8B
CUI: C3809965
Disease:
NEPHROTIC SYNDROME, TYPE 9 		0.800 GeneticVariation UNIPROT ADCK4-Associated Glomerulopathy Causes Adolescence-Onset FSGS. 25967120 2016
dbSNP: rs398122979
rs398122979
Entrez Id: 79934
Gene Symbol: COQ8B
COQ8B
CUI: C3809965
Disease:
NEPHROTIC SYNDROME, TYPE 9 		0.800 GeneticVariation UNIPROT ADCK4-Associated Glomerulopathy Causes Adolescence-Onset FSGS. 25967120 2016
dbSNP: rs398122981
rs398122981
Entrez Id: 79934
Gene Symbol: COQ8B
COQ8B
CUI: C3809965
Disease:
NEPHROTIC SYNDROME, TYPE 9 		0.800 GeneticVariation UNIPROT ADCK4-Associated Glomerulopathy Causes Adolescence-Onset FSGS. 25967120 2016
dbSNP: rs1057519347
rs1057519347
Entrez Id: 9253;79934
Gene Symbol: NUMBL;COQ8B
NUMBL;COQ8B
CUI: C3809965
Disease:
NEPHROTIC SYNDROME, TYPE 9 		T 0.800 CausalMutation CLINVAR ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption. 24270420 2013
dbSNP: rs369573693
rs369573693
Entrez Id: 79934
Gene Symbol: COQ8B
COQ8B
CUI: C3809965
Disease:
NEPHROTIC SYNDROME, TYPE 9 		A 0.800 CausalMutation CLINVAR ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption. 24270420 2013
dbSNP: rs369573693
rs369573693
Entrez Id: 79934
Gene Symbol: COQ8B
COQ8B
CUI: C3809965
Disease:
NEPHROTIC SYNDROME, TYPE 9 		0.800 GeneticVariation UNIPROT ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption. 24270420 2013
dbSNP: rs398122978
rs398122978
Entrez Id: 79934
Gene Symbol: COQ8B
COQ8B
CUI: C3809965
Disease:
NEPHROTIC SYNDROME, TYPE 9 		0.800 GeneticVariation UNIPROT ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption. 24270420 2013
dbSNP: rs398122978
rs398122978
Entrez Id: 79934
Gene Symbol: COQ8B
COQ8B
CUI: C3809965
Disease:
NEPHROTIC SYNDROME, TYPE 9 		A 0.800 CausalMutation CLINVAR ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption. 24270420 2013
dbSNP: rs398122979
rs398122979
Entrez Id: 79934
Gene Symbol: COQ8B
COQ8B
CUI: C3809965
Disease:
NEPHROTIC SYNDROME, TYPE 9 		C 0.800 CausalMutation CLINVAR ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption. 24270420 2013
dbSNP: rs398122979
rs398122979
Entrez Id: 79934
Gene Symbol: COQ8B
COQ8B
CUI: C3809965
Disease:
NEPHROTIC SYNDROME, TYPE 9 		0.800 GeneticVariation UNIPROT ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption. 24270420 2013
dbSNP: rs398122981
rs398122981
Entrez Id: 79934
Gene Symbol: COQ8B
COQ8B
CUI: C3809965
Disease:
NEPHROTIC SYNDROME, TYPE 9 		0.800 GeneticVariation UNIPROT ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption. 24270420 2013
dbSNP: rs398122981
rs398122981
Entrez Id: 79934
Gene Symbol: COQ8B
COQ8B
CUI: C3809965
Disease:
NEPHROTIC SYNDROME, TYPE 9 		A 0.800 CausalMutation CLINVAR ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption. 24270420 2013
dbSNP: rs1057519347
rs1057519347
Entrez Id: 9253;79934
Gene Symbol: NUMBL;COQ8B
NUMBL;COQ8B
CUI: C3809965
Disease:
NEPHROTIC SYNDROME, TYPE 9 		0.800 GeneticVariation UNIPROT