TGFB1, transforming growth factor beta 1, 7040

N. diseases: 1558; N. variants: 50
Disease: Chronic Obstructive Airway Disease ×
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: rs1800469
rs1800469 		0.547 0.760 19 41354391 intron variant A/G snv 0.69
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.040 1.000 4 2004 2017
dbSNP: rs1800470
rs1800470 		0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.030 1.000 3 2010 2016
dbSNP: rs1982073
rs1982073 		0.649 0.640 19 41353016 missense variant G/A;C snv
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.030 0.333 3 2004 2017
dbSNP: rs2241718
rs2241718 		0.882 0.040 19 41323701 3 prime UTR variant G/A snv 0.15
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.030 0.667 3 2011 2017
dbSNP: rs6957
rs6957 		1.000 0.040 19 41324701 3 prime UTR variant T/C snv 0.21
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.020 1.000 2 2012 2017