Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1364709483
rs1364709483
TBX2 ; TBX2-AS1
0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05
CUI: C0521525
Disease: Short neck
Short neck 		0.700 0
dbSNP: rs1364709483
rs1364709483
TBX2 ; TBX2-AS1
0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05
CUI: C0022738
Disease: Klippel-Feil Syndrome
Klippel-Feil Syndrome 		0.700 0
dbSNP: rs1364709483
rs1364709483
TBX2 ; TBX2-AS1
0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05
CUI: C0685894
Disease: Congenital absence of thymus
Congenital absence of thymus 		0.700 0
dbSNP: rs1364709483
rs1364709483
TBX2 ; TBX2-AS1
0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05
CUI: C1853638
Disease: Broad neck
Broad neck 		0.700 0
dbSNP: rs1364709483
rs1364709483
TBX2 ; TBX2-AS1
0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05
CUI: C1849221
Disease: Fair hair
Fair hair 		0.700 0
dbSNP: rs1364709483
rs1364709483
TBX2 ; TBX2-AS1
0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		0.700 0
dbSNP: rs1364709483
rs1364709483
TBX2 ; TBX2-AS1
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
TBX2 ; TBX2-AS1
0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05
CUI: C0685409
Disease: Congenital Camptodactyly
Congenital Camptodactyly 		0.700 0
dbSNP: rs1364709483
rs1364709483
TBX2 ; TBX2-AS1
0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		0.700 0
dbSNP: rs1364709483
rs1364709483
TBX2 ; TBX2-AS1
0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05
CUI: C0235659
Disease: Reduced fetal movement
Reduced fetal movement 		0.700 0
dbSNP: rs1364709483
rs1364709483
TBX2 ; TBX2-AS1
0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.700 0