PDS5B, PDS5 cohesin associated factor B, 23047

N. diseases: 26; N. variants: 8
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs9595908
rs9595908 		13 32610151 intron variant T/A;C;G snv
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 2 2018 2019
dbSNP: rs113855064
rs113855064 		0.925 0.120 13 32601963 intron variant T/C snv 6.6E-03
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2017 2017
dbSNP: rs113855064
rs113855064 		0.925 0.120 13 32601963 intron variant T/C snv 6.6E-03
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.700 1.000 1 2017 2017
dbSNP: rs11840502
rs11840502 		1.000 0.040 13 32624572 intron variant G/A;T snv
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs185038874
rs185038874 		1.000 0.080 13 32664993 intron variant C/G snv 6.6E-03
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.700 1.000 1 2017 2017
dbSNP: rs4942792
rs4942792 		13 32663326 intron variant C/A;G snv
CUI: C1285654
Disease: Memory performance
Memory performance 		0.700 1.000 1 2018 2018
dbSNP: rs532990872
rs532990872 		13 32605907 intron variant -/TC ins
CUI: C0200665
Disease: Platelet mean volume determination (procedure)
Platelet mean volume determination (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs9595893
rs9595893 		13 32601656 intron variant G/C;T snv
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs1344806616
rs1344806616 		1.000 0.080 13 32770371 missense variant G/A snv 7.0E-06
CUI: C0270972
Disease: Cornelia De Lange Syndrome
Cornelia De Lange Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2009 2009