TGFB2, transforming growth factor beta 2, 7042

N. diseases: 389; N. variants: 56
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: rs1553303352
rs1553303352 		0.882 0.120 1 218437368 missense variant C/T snv
CUI: C0012736
Disease: Dissecting aortic aneurysm
Dissecting aortic aneurysm 		Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1553303352
rs1553303352 		0.882 0.120 1 218437368 missense variant C/T snv
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1891467
rs1891467 		0.925 0.040 1 218406643 intron variant A/G snv 0.34
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis 		Hemic and Lymphatic Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1891467
rs1891467 		0.925 0.040 1 218406643 intron variant A/G snv 0.34
CUI: C0340164
Disease: Lofgrens syndrome
Lofgrens syndrome 		Hemic and Lymphatic Diseases 0.010 1.000 1 2011 2011
dbSNP: rs6658835
rs6658835 		1.000 1 218347653 intron variant A/C;G snv 0.39
CUI: C1853238
Disease: Conotruncal defect
Conotruncal defect 		0.010 1.000 1 2017 2017
dbSNP: rs7550232
rs7550232 		1.000 0.040 1 218345173 splice donor variant A/C snv 0.19
CUI: C0271183
Disease: Severe myopia
Severe myopia 		Eye Diseases 0.010 1.000 1 2009 2009
dbSNP: rs869312903
rs869312903 		0.882 0.120 1 218436119 missense variant C/A;T snv
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs900
rs900 		0.882 0.040 1 218441563 3 prime UTR variant A/T snv 0.33
CUI: C1834819
Disease: MYXOMATOUS MITRAL VALVE PROLAPSE 1
MYXOMATOUS MITRAL VALVE PROLAPSE 1 		Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs900
rs900 		0.882 0.040 1 218441563 3 prime UTR variant A/T snv 0.33
CUI: C0003486
Disease: Aortic Aneurysm
Aortic Aneurysm 		Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs900
rs900 		0.882 0.040 1 218441563 3 prime UTR variant A/T snv 0.33
CUI: C0026267
Disease: Mitral Valve Prolapse Syndrome
Mitral Valve Prolapse Syndrome 		Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1553292105
rs1553292105 		1 218346929 frameshift variant TTGCTCCAGGAGAAGGC/- delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 7 2004 2015
dbSNP: rs6684205
rs6684205 		1 218436360 intron variant A/G;T snv
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 3 2010 2019
dbSNP: rs863223792
rs863223792 		0.925 0.120 1 218436110 missense variant C/T snv
CUI: C0265264
Disease: Holt-Oram syndrome
Holt-Oram syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 1.000 3 2012 2016
dbSNP: rs1553292145
rs1553292145 		1.000 0.120 1 218347048 splice donor variant G/A;T snv
CUI: C0265264
Disease: Holt-Oram syndrome
Holt-Oram syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 1.000 2 2012 2012
dbSNP: rs1553303161
rs1553303161 		1.000 0.120 1 218435965 splice acceptor variant TCAA/G delins
CUI: C0265264
Disease: Holt-Oram syndrome
Holt-Oram syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 1.000 2 2012 2012
dbSNP: rs1890995
rs1890995 		1 218431336 intron variant G/A snv 0.33
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 2 2015 2019
dbSNP: rs869312903
rs869312903 		0.882 0.120 1 218436119 missense variant C/A;T snv
CUI: C0265264
Disease: Holt-Oram syndrome
Holt-Oram syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 1.000 2 2012 2015
dbSNP: rs991967
rs991967 		1 218442109 3 prime UTR variant A/C snv 0.37
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 2 2014 2019
dbSNP: rs10482792
rs10482792 		1 218432119 intron variant G/A snv 0.33
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function 		0.700 1.000 1 2015 2015
dbSNP: rs10482792
rs10482792 		1 218432119 intron variant G/A snv 0.33
CUI: C3548479
Disease: response to bronchodilator
response to bronchodilator 		0.700 1.000 1 2015 2015
dbSNP: rs10482795
rs10482795 		1 218432267 intron variant G/A;T snv
CUI: C4049938
Disease: Physical Activity Measurement
Physical Activity Measurement 		0.700 1.000 1 2017 2017
dbSNP: rs10482795
rs10482795 		1 218432267 intron variant G/A;T snv
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs10482796
rs10482796 		1 218432293 intron variant T/C snv 0.22
CUI: C3548479
Disease: response to bronchodilator
response to bronchodilator 		0.700 1.000 1 2015 2015
dbSNP: rs10482796
rs10482796 		1 218432293 intron variant T/C snv 0.22
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function 		0.700 1.000 1 2015 2015
dbSNP: rs10746379
rs10746379 		1 218402545 intron variant A/G snv 0.20
CUI: C3548479
Disease: response to bronchodilator
response to bronchodilator 		0.700 1.000 1 2015 2015