TBX2, T-box transcription factor 2, 6909

N. diseases: 152; N. variants: 11
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: rs1364709483
rs1364709483 		0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		Musculoskeletal Diseases 0.700 0
dbSNP: rs1364709483
rs1364709483 		0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05
CUI: C1856872
Disease: Down-sloping shoulders
Down-sloping shoulders 		0.700 0
dbSNP: rs1364709483
rs1364709483 		0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05
CUI: C0265695
Disease: Congenital fusion of ribs
Congenital fusion of ribs 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs1364709483
rs1364709483 		0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05
CUI: C1855728
Disease: Low posterior hairline
Low posterior hairline 		0.700 0
dbSNP: rs1364709483
rs1364709483 		0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05
CUI: C1845447
Disease: Cupped ears (finding)
Cupped ears (finding) 		0.700 0
dbSNP: rs1364709483
rs1364709483 		0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05
CUI: C0271135
Disease: Ectopic pupil
Ectopic pupil 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0