rs1555532483
C1QBP;RPAIN
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
rs1555532484
C1QBP;RPAIN
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
rs1555532483
C1QBP;RPAIN
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33
G
0.800
CausalMutation
CLINVAR
rs1555532484
C1QBP;RPAIN
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33
A
0.800
CausalMutation
CLINVAR
rs748497469
×
Entrez Id:
708
Gene Symbol:
C1QBP
C1QBP
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33
G
0.800
CausalMutation
CLINVAR
rs748497469
×
Entrez Id:
708
Gene Symbol:
C1QBP
C1QBP
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33
0.800
GeneticVariation
UNIPROT
rs767427194
C1QBP;RPAIN
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33
C
0.800
CausalMutation
CLINVAR
rs767427194
C1QBP;RPAIN
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33
0.800
GeneticVariation
UNIPROT
rs1394499137
C1QBP;RPAIN
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33
A
0.700
CausalMutation
CLINVAR
rs755568057
×
Entrez Id:
708
Gene Symbol:
C1QBP
C1QBP
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33
G
0.700
CausalMutation
CLINVAR
rs3786054
×
Entrez Id:
708
Gene Symbol:
C1QBP
C1QBP
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
rs2285747
×
Entrez Id:
708
Gene Symbol:
C1QBP
C1QBP
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
rs2285747
×
Entrez Id:
708
Gene Symbol:
C1QBP
C1QBP
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
rs2472614
×
Entrez Id:
708
Gene Symbol:
C1QBP
C1QBP
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
rs3786054
×
Entrez Id:
708
Gene Symbol:
C1QBP
C1QBP
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
rs3786054
×
Entrez Id:
708
Gene Symbol:
C1QBP
C1QBP
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