RPAIN, RPA interacting protein, 84268

N. diseases: 60; N. variants: 8
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: 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: 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: 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: 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: rs11650324
rs11650324
Entrez Id: 84268
Gene Symbol: RPAIN
RPAIN
CUI: C1629609
Disease:
Age at menopause 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs2189336
rs2189336
Entrez Id: 84268
Gene Symbol: RPAIN
RPAIN
CUI: C0023508
Disease:
White Blood Cell Count procedure 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs1071648
rs1071648
Entrez Id: 84268
Gene Symbol: RPAIN
RPAIN
CUI: C1305855
Disease:
Body mass index 		T 0.700 GeneticVariation GWASCAT Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity. 29273807 2018
dbSNP: rs8070740
rs8070740
Entrez Id: 84268
Gene Symbol: RPAIN
RPAIN
CUI: C1629609
Disease:
Age at menopause 		A 0.700 GeneticVariation GWASCAT Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair. 26414677 2015
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