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: rs387907278
rs387907278 		1.000 1 218437423 missense variant C/A snv
CUI: C3553762
Disease: LOEYS-DIETZ SYNDROME 4
LOEYS-DIETZ SYNDROME 4 		0.800 1.000 2 2012 2012
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
dbSNP: rs10863398
rs10863398 		1 218414937 intron variant G/A;C snv
CUI: C3548479
Disease: response to bronchodilator
response to bronchodilator 		0.700 1.000 1 2015 2015
dbSNP: rs10863398
rs10863398 		1 218414937 intron variant G/A;C snv
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function 		0.700 1.000 1 2015 2015
dbSNP: rs11118102
rs11118102 		1 218398662 intron variant G/A snv 0.17
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function 		0.700 1.000 1 2015 2015
dbSNP: rs113711540
rs113711540 		1 218346586 5 prime UTR variant -/CAA delins
CUI: C0040420
Disease: Tonometry
Tonometry 		0.700 1.000 1 2018 2018
dbSNP: rs12048049
rs12048049 		1 218423955 intron variant C/G snv 0.37
CUI: C1519383
Disease: Smoking Behaviors
Smoking Behaviors 		Behavior and Behavior Mechanisms 0.700 1.000 1 2017 2017
dbSNP: rs12048049
rs12048049 		1 218423955 intron variant C/G snv 0.37
CUI: C0037369
Disease: Smoking
Smoking 		Behavior and Behavior Mechanisms 0.700 1.000 1 2017 2017
dbSNP: rs12048582
rs12048582 		1 218419695 intron variant C/G;T snv
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function 		0.700 1.000 1 2015 2015
dbSNP: rs12048582
rs12048582 		1 218419695 intron variant C/G;T snv
CUI: C3548479
Disease: response to bronchodilator
response to bronchodilator 		0.700 1.000 1 2015 2015
dbSNP: rs12088448
rs12088448 		1 218372828 intron variant A/C snv 0.43
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2019 2019