Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1364709483
rs1364709483
TBX2 ; TBX2-AS1
CUI: C4748741
Disease: VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION
VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION 		A 0.800 CausalMutation CLINVAR

dbSNP: rs1364709483
rs1364709483
TBX2 ; TBX2-AS1
CUI: C0152438
Disease: Sprengel deformity
Sprengel deformity 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1364709483
rs1364709483
TBX2 ; TBX2-AS1
CUI: C0265695
Disease: Congenital fusion of ribs
Congenital fusion of ribs 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1364709483
rs1364709483
TBX2 ; TBX2-AS1
CUI: C0040147
Disease: Thyroiditis
Thyroiditis 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1364709483
rs1364709483
TBX2 ; TBX2-AS1
CUI: C0271135
Disease: Ectopic pupil
Ectopic pupil 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1364709483
rs1364709483
TBX2 ; TBX2-AS1
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1364709483
rs1364709483
TBX2 ; TBX2-AS1
CUI: C0392006
Disease: Unilateral cleft lip
Unilateral cleft lip 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1364709483
rs1364709483
TBX2 ; TBX2-AS1
CUI: C4012968
Disease: Mild global developmental delay
Mild global developmental delay 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1364709483
rs1364709483
TBX2 ; TBX2-AS1
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1364709483
rs1364709483
TBX2 ; TBX2-AS1
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1364709483
rs1364709483
TBX2 ; TBX2-AS1
CUI: C1849221
Disease: Fair hair
Fair hair 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1364709483
rs1364709483
TBX2 ; TBX2-AS1
CUI: C1845447
Disease: Cupped ears (finding)
Cupped ears (finding) 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1364709483
rs1364709483
TBX2 ; TBX2-AS1
CUI: C1401781
Disease: Short uvula
Short uvula 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1364709483
rs1364709483
TBX2 ; TBX2-AS1
CUI: C1849340
Disease: Long palpebral fissure
Long palpebral fissure 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1364709483
rs1364709483
TBX2 ; TBX2-AS1
CUI: C0521525
Disease: Short neck
Short neck 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1364709483
rs1364709483
TBX2 ; TBX2-AS1
CUI: C1837108
Disease: Decreased muscle mass
Decreased muscle mass 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1364709483
rs1364709483
TBX2 ; TBX2-AS1
CUI: C1835884
Disease: Triangular face
Triangular face 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1364709483
rs1364709483
TBX2 ; TBX2-AS1
CUI: C4022143
Disease: Unilateral cleft palate
Unilateral cleft palate 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1364709483
rs1364709483
TBX2 ; TBX2-AS1
CUI: C0036572
Disease: Seizures
Seizures 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1364709483
rs1364709483
TBX2 ; TBX2-AS1
CUI: C1853638
Disease: Broad neck
Broad neck 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1364709483
rs1364709483
TBX2 ; TBX2-AS1
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1364709483
rs1364709483
TBX2 ; TBX2-AS1
CUI: C0685409
Disease: Congenital Camptodactyly
Congenital Camptodactyly 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1364709483
rs1364709483
TBX2 ; TBX2-AS1
CUI: C0240953
Disease: Winged scapula
Winged scapula 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1364709483
rs1364709483
TBX2 ; TBX2-AS1
CUI: C0235659
Disease: Reduced fetal movement
Reduced fetal movement 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1364709483
rs1364709483
TBX2 ; TBX2-AS1
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		A 0.700 CausalMutation CLINVAR