TGFA, transforming growth factor alpha, 7039

N. diseases: 376; N. variants: 10
Disease: Cleft palate, isolated ×
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: 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: 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: 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