TGFA, transforming growth factor alpha, 7039

N. diseases: 376; N. variants: 10
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: rs432203
rs432203 		2 70537556 intron variant C/A snv 0.58
CUI: C0023980
Disease: Longevity
Longevity 		0.800 1.000 1 2010 2010
dbSNP: rs3771501
rs3771501 		0.925 0.040 2 70490521 intron variant A/G snv 0.60
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		Musculoskeletal Diseases 0.700 1.000 2 2018 2019
dbSNP: rs3771501
rs3771501 		0.925 0.040 2 70490521 intron variant A/G snv 0.60
CUI: C0029410
Disease: Osteoarthritis of hip
Osteoarthritis of hip 		Musculoskeletal Diseases 0.700 1.000 1 2018 2018
dbSNP: rs3821262
rs3821262 		0.925 0.040 2 70493874 intron variant A/G snv 0.48
CUI: C0409959
Disease: Osteoarthritis, Knee
Osteoarthritis, Knee 		Musculoskeletal Diseases 0.700 1.000 1 2019 2019
dbSNP: rs3821262
rs3821262 		0.925 0.040 2 70493874 intron variant A/G snv 0.48
CUI: C0029410
Disease: Osteoarthritis of hip
Osteoarthritis of hip 		Musculoskeletal Diseases 0.700 1.000 1 2019 2019
dbSNP: rs7571789
rs7571789 		1.000 0.040 2 70487661 intron variant T/C snv 0.57
CUI: C0029410
Disease: Osteoarthritis of hip
Osteoarthritis of hip 		Musculoskeletal Diseases 0.700 1.000 1 2019 2019
dbSNP: rs79070520
rs79070520 		2 70532529 intron variant C/T snv 2.0E-02
CUI: C3893645
Disease: response to ACE inhibitor
response to ACE inhibitor 		0.700 1.000 1 2017 2017
dbSNP: rs11466285
rs11466285 		0.851 0.200 2 70450307 3 prime UTR variant A/C;G snv
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs11466285
rs11466285 		0.851 0.200 2 70450307 3 prime UTR variant A/C;G snv
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs11466285
rs11466285 		0.851 0.200 2 70450307 3 prime UTR variant A/C;G snv
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs11466285
rs11466285 		0.851 0.200 2 70450307 3 prime UTR variant A/C;G snv
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs11466285
rs11466285 		0.851 0.200 2 70450307 3 prime UTR variant A/C;G snv
CUI: C4321245
Disease: Cleft lip or lips
Cleft lip or lips 		0.010 1.000 1 2014 2014
dbSNP: rs2166975
rs2166975 		0.827 0.240 2 70450862 synonymous variant G/A snv 0.24 0.23
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		Nervous System Diseases 0.010 1.000 1 2007 2007
dbSNP: rs2166975
rs2166975 		0.827 0.240 2 70450862 synonymous variant G/A snv 0.24 0.23
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.010 1.000 1 2007 2007
dbSNP: rs2166975
rs2166975 		0.827 0.240 2 70450862 synonymous variant G/A snv 0.24 0.23
CUI: C0810364
Disease: Cleft Lip with or without Cleft Palate
Cleft Lip with or without Cleft Palate 		0.010 1.000 1 2007 2007
dbSNP: rs2166975
rs2166975 		0.827 0.240 2 70450862 synonymous variant G/A snv 0.24 0.23
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.010 1.000 1 2007 2007
dbSNP: rs2166975
rs2166975 		0.827 0.240 2 70450862 synonymous variant G/A snv 0.24 0.23
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2007 2007
dbSNP: rs2862851
rs2862851 		1.000 0.040 2 70485670 intron variant T/C snv 0.58
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		Musculoskeletal Diseases 0.010 1.000 1 2017 2017
dbSNP: rs3732253
rs3732253 		1.000 2 70448966 3 prime UTR variant G/A snv 0.22
CUI: C3150911
Disease: GASTRIC CANCER, INTESTINAL
GASTRIC CANCER, INTESTINAL 		0.010 1.000 1 2014 2014
dbSNP: rs3771523
rs3771523 		0.851 0.200 2 70450336 3 prime UTR variant C/T snv 0.14
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs3771523
rs3771523 		0.851 0.200 2 70450336 3 prime UTR variant C/T snv 0.14
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs3771523
rs3771523 		0.851 0.200 2 70450336 3 prime UTR variant C/T snv 0.14
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs3771523
rs3771523 		0.851 0.200 2 70450336 3 prime UTR variant C/T snv 0.14
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs3771523
rs3771523 		0.851 0.200 2 70450336 3 prime UTR variant C/T snv 0.14
CUI: C4321245
Disease: Cleft lip or lips
Cleft lip or lips 		0.010 1.000 1 2014 2014