C1QBP, complement C1q binding protein, 708

N. diseases: 111; N. variants: 9
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555532483
rs1555532483
Entrez Id: 708;84268
Gene Symbol: C1QBP;RPAIN
C1QBP;RPAIN
CUI: C4540209
Disease:
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33
0.800 GeneticVariation UNIPROT Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies. 28942965 2017
dbSNP: rs1555532484
rs1555532484
Entrez Id: 708;84268
Gene Symbol: C1QBP;RPAIN
C1QBP;RPAIN
CUI: C4540209
Disease:
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33
0.800 GeneticVariation UNIPROT Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies. 28942965 2017
dbSNP: rs748497469
rs748497469
Entrez Id: 708
Gene Symbol: C1QBP
C1QBP
CUI: C4540209
Disease:
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33
0.800 GeneticVariation UNIPROT
dbSNP: rs767427194
rs767427194
Entrez Id: 708;84268
Gene Symbol: C1QBP;RPAIN
C1QBP;RPAIN
CUI: C4540209
Disease:
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33
0.800 GeneticVariation UNIPROT
dbSNP: rs2285747
rs2285747
Entrez Id: 708
Gene Symbol: C1QBP
C1QBP
CUI: C0678222
Disease:
Breast Carcinoma
0.010 GeneticVariation BEFREE SNP rs2285747 of HABP1 increased breast cancer risk and elevated its protein expression in northern Chinese women. 28108744 2017
dbSNP: rs2285747
rs2285747
Entrez Id: 708
Gene Symbol: C1QBP
C1QBP
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.010 GeneticVariation BEFREE SNP rs2285747 of HABP1 increased breast cancer risk and elevated its protein expression in northern Chinese women. 28108744 2017
dbSNP: rs2472614
rs2472614
Entrez Id: 708
Gene Symbol: C1QBP
C1QBP
CUI: C0027651
Disease:
Neoplasms
0.010 GeneticVariation BEFREE For rs2472614, the patients with CG and GG were more likely to have HER2 negative tumors compared to CC (p = 0.015). 28108744 2017
dbSNP: rs3786054
rs3786054
Entrez Id: 708
Gene Symbol: C1QBP
C1QBP
CUI: C2062441
Disease:
Influenza A
0.010 GeneticVariation BEFREE Host genomic DNA was isolated from pharyngeal samples of 110 patients from northern Greece with severe (n = 59) or mild (n = 51) influenza A(H1N1)pdm09 disease, at baseline, and the genotype of CD55 rs2564978, C1QBP rs3786054 and FCGR2A rs1801274 SNPs was investigated. 30306260 2019
dbSNP: rs3786054
rs3786054
Entrez Id: 708
Gene Symbol: C1QBP
C1QBP
CUI: C0678222
Disease:
Breast Carcinoma
0.010 GeneticVariation BEFREE For rs3786054, the patients with AG and GG were more likely to have HER2 and P53 negative breast cancer compared to AA (p = 0.024, p = 0.064, receptively). 28108744 2017
dbSNP: rs3786054
rs3786054
Entrez Id: 708
Gene Symbol: C1QBP
C1QBP
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.010 GeneticVariation BEFREE For rs3786054, the patients with AG and GG were more likely to have HER2 and P53 negative breast cancer compared to AA (p = 0.024, p = 0.064, receptively). 28108744 2017
dbSNP: rs1555532484
rs1555532484
Entrez Id: 708;84268
Gene Symbol: C1QBP;RPAIN
C1QBP;RPAIN
CUI: C4540209
Disease:
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33
A 0.800 CausalMutation CLINVAR
dbSNP: rs1394499137
rs1394499137
Entrez Id: 708;84268
Gene Symbol: C1QBP;RPAIN
C1QBP;RPAIN
CUI: C4540209
Disease:
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33
A 0.700 CausalMutation CLINVAR
dbSNP: rs767427194
rs767427194
Entrez Id: 708;84268
Gene Symbol: C1QBP;RPAIN
C1QBP;RPAIN
CUI: C4540209
Disease:
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33
C 0.800 CausalMutation CLINVAR
dbSNP: rs1555532483
rs1555532483
Entrez Id: 708;84268
Gene Symbol: C1QBP;RPAIN
C1QBP;RPAIN
CUI: C4540209
Disease:
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33
G 0.800 CausalMutation CLINVAR
dbSNP: rs748497469
rs748497469
Entrez Id: 708
Gene Symbol: C1QBP
C1QBP
CUI: C4540209
Disease:
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33
G 0.800 CausalMutation CLINVAR
dbSNP: rs755568057
rs755568057
Entrez Id: 708
Gene Symbol: C1QBP
C1QBP
CUI: C4540209
Disease:
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33
G 0.700 CausalMutation CLINVAR