TGFB1, transforming growth factor beta 1, 7040

N. diseases: 1558; N. variants: 50
Disease: Camurati-Engelmann Syndrome ×
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: rs104894721
rs104894721 		1.000 0.080 19 41342230 missense variant G/A snv
CUI: C0011989
Disease: Camurati-Engelmann Syndrome
Camurati-Engelmann Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.740 1.000 4 2003 2014
dbSNP: rs104894719
rs104894719 		1.000 0.080 19 41342209 missense variant A/G snv
CUI: C0011989
Disease: Camurati-Engelmann Syndrome
Camurati-Engelmann Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.710 1.000 1 2001 2001
dbSNP: rs200482214
rs200482214 		0.882 0.200 19 41348345 missense variant G/A snv 2.8E-05
CUI: C0011989
Disease: Camurati-Engelmann Syndrome
Camurati-Engelmann Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.710 1.000 1 2013 2013
dbSNP: rs281865484
rs281865484 		1.000 0.080 19 41348306 missense variant C/G;T snv 4.0E-06
CUI: C0011989
Disease: Camurati-Engelmann Syndrome
Camurati-Engelmann Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.710 1.000 1 2017 2017
dbSNP: rs104894720
rs104894720 		1.000 0.080 19 41342229 missense variant C/T snv
CUI: C0011989
Disease: Camurati-Engelmann Syndrome
Camurati-Engelmann Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs104894722
rs104894722 		1.000 0.080 19 41342215 missense variant A/C;G;T snv
CUI: C0011989
Disease: Camurati-Engelmann Syndrome
Camurati-Engelmann Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs111033611
rs111033611 		1.000 0.080 19 41352804 missense variant A/G snv
CUI: C0011989
Disease: Camurati-Engelmann Syndrome
Camurati-Engelmann Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs281865483
rs281865483 		1.000 0.080 19 41353006 inframe insertion -/AGCAGCAGC delins 7.5E-06
CUI: C0011989
Disease: Camurati-Engelmann Syndrome
Camurati-Engelmann Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs281865485
rs281865485 		1.000 0.080 19 41342218 missense variant G/C snv
CUI: C0011989
Disease: Camurati-Engelmann Syndrome
Camurati-Engelmann Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0