PDS5B, PDS5 cohesin associated factor B, 23047

N. diseases: 26; N. variants: 8
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs9595893
rs9595893
Entrez Id: 23047
Gene Symbol: PDS5B
PDS5B
CUI: C1305855
Disease:
Body mass index 		T 0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry. 30239722 2019
dbSNP: rs9595908
rs9595908
Entrez Id: 23047
Gene Symbol: PDS5B
PDS5B
CUI: C1305855
Disease:
Body mass index 		T 0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry. 30239722 2019
dbSNP: rs11840502
rs11840502
Entrez Id: 23047
Gene Symbol: PDS5B
PDS5B
CUI: C1956346
Disease:
Coronary Artery Disease 		A 0.700 GeneticVariation GWASCAT Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease. 29212778 2018
dbSNP: rs4942792
rs4942792
Entrez Id: 23047
Gene Symbol: PDS5B
PDS5B
CUI: C1285654
Disease:
Memory performance 		G 0.700 GeneticVariation GWASCAT Genome-wide association study of Alzheimer's disease endophenotypes at prediagnosis stages. 29274321 2018
dbSNP: rs9595908
rs9595908
Entrez Id: 23047
Gene Symbol: PDS5B
PDS5B
CUI: C1305855
Disease:
Body mass index 		T 0.700 GeneticVariation GWASCAT A Large Multiethnic Genome-Wide Association Study of Adult Body Mass Index Identifies Novel Loci. 30108127 2018
dbSNP: rs113855064
rs113855064
Entrez Id: 23047
Gene Symbol: PDS5B
PDS5B
CUI: C0678222
Disease:
Breast Carcinoma 		C 0.700 GeneticVariation GWASCAT Association analysis identifies 65 new breast cancer risk loci. 29059683 2017
dbSNP: rs113855064
rs113855064
Entrez Id: 23047
Gene Symbol: PDS5B
PDS5B
CUI: C0149782
Disease:
Squamous cell carcinoma of lung 		C 0.700 GeneticVariation GWASCAT Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes. 28604730 2017
dbSNP: rs185038874
rs185038874
Entrez Id: 23047
Gene Symbol: PDS5B
PDS5B
CUI: C0684249
Disease:
Carcinoma of lung 		G 0.700 GeneticVariation GWASCAT Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes. 28604730 2017
dbSNP: rs532990872
rs532990872
Entrez Id: 23047
Gene Symbol: PDS5B
PDS5B
CUI: C0200665
Disease:
Platelet mean volume determination (procedure) 		TC 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs1344806616
rs1344806616
Entrez Id: 23047
Gene Symbol: PDS5B
PDS5B
CUI: C0270972
Disease:
Cornelia De Lange Syndrome 		0.010 GeneticVariation BEFREE We further identified a functional missense mutation (R1292Q) in the PDS5B DNA-binding domain in a familial case of CdLS, in which affected individuals also develop megacolon. 19412548 2009