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: rs1057519389
rs1057519389
EBF3
0.695 0.400 10 129957324 missense variant C/A;G;T snv
CUI: C4310618
Disease: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME 		0.800 0
dbSNP: rs1057519389
rs1057519389
EBF3
0.695 0.400 10 129957324 missense variant C/A;G;T snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.700 1.000 8 2009 2017
dbSNP: rs1057519389
rs1057519389
EBF3
0.695 0.400 10 129957324 missense variant C/A;G;T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 8 2009 2017
dbSNP: rs1057519389
rs1057519389
EBF3
0.695 0.400 10 129957324 missense variant C/A;G;T snv
CUI: C0031900
Disease: Pierre Robin Syndrome
Pierre Robin Syndrome 		0.700 1.000 2 2017 2017
dbSNP: rs1057519389
rs1057519389
EBF3
0.695 0.400 10 129957324 missense variant C/A;G;T snv
CUI: C0566899
Disease: Small labia majora
Small labia majora 		0.700 1.000 1 2017 2017
dbSNP: rs1057519389
rs1057519389
EBF3
0.695 0.400 10 129957324 missense variant C/A;G;T snv
CUI: C0038273
Disease: Stereotypic Movement Disorder
Stereotypic Movement Disorder 		0.700 1.000 1 2017 2017
dbSNP: rs1057519389
rs1057519389
EBF3
0.695 0.400 10 129957324 missense variant C/A;G;T snv
CUI: C0040485
Disease: Torticollis
Torticollis 		0.700 1.000 1 2017 2017
dbSNP: rs1057519389
rs1057519389
EBF3
0.695 0.400 10 129957324 missense variant C/A;G;T snv
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		0.700 1.000 1 2017 2017
dbSNP: rs1057519389
rs1057519389
EBF3
0.695 0.400 10 129957324 missense variant C/A;G;T snv
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 1.000 1 2017 2017
dbSNP: rs1057519389
rs1057519389
EBF3
0.695 0.400 10 129957324 missense variant C/A;G;T snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 1.000 1 2017 2017
dbSNP: rs1057519389
rs1057519389
EBF3
0.695 0.400 10 129957324 missense variant C/A;G;T snv
CUI: C0004134
Disease: Ataxia
Ataxia 		0.700 1.000 1 2017 2017
dbSNP: rs1057519389
rs1057519389
EBF3
0.695 0.400 10 129957324 missense variant C/A;G;T snv
CUI: C1865304
Disease: Overfolding of the superior helices
Overfolding of the superior helices 		0.700 1.000 1 2017 2017
dbSNP: rs1057519389
rs1057519389
EBF3
0.695 0.400 10 129957324 missense variant C/A;G;T snv
CUI: C1855676
Disease: Aplasia/Hypoplasia of the cerebellar vermis
Aplasia/Hypoplasia of the cerebellar vermis 		0.700 1.000 1 2017 2017
dbSNP: rs1057519389
rs1057519389
EBF3
0.695 0.400 10 129957324 missense variant C/A;G;T snv
CUI: C0079924
Disease: Oligohydramnios
Oligohydramnios 		0.700 1.000 1 2017 2017
dbSNP: rs1057519389
rs1057519389
EBF3
0.695 0.400 10 129957324 missense variant C/A;G;T snv
CUI: C4025865
Disease: Abnormality of facial musculature
Abnormality of facial musculature 		0.700 1.000 1 2017 2017
dbSNP: rs1057519389
rs1057519389
EBF3
0.695 0.400 10 129957324 missense variant C/A;G;T snv
CUI: C1835884
Disease: Triangular face
Triangular face 		0.700 1.000 1 2017 2017
dbSNP: rs1057519389
rs1057519389
EBF3
0.695 0.400 10 129957324 missense variant C/A;G;T snv
CUI: C1837522
Disease: Impaired pain sensation
Impaired pain sensation 		0.700 1.000 1 2017 2017
dbSNP: rs1057519389
rs1057519389
EBF3
0.695 0.400 10 129957324 missense variant C/A;G;T snv
CUI: C0038379
Disease: Strabismus
Strabismus 		0.700 1.000 1 2017 2017
dbSNP: rs1057519389
rs1057519389
EBF3
0.695 0.400 10 129957324 missense variant C/A;G;T snv
CUI: C0003635
Disease: Apraxias
Apraxias 		0.700 1.000 1 2017 2017
dbSNP: rs1057519389
rs1057519389
EBF3
0.695 0.400 10 129957324 missense variant C/A;G;T snv
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		0.700 1.000 1 2017 2017
dbSNP: rs1057519389
rs1057519389
EBF3
0.695 0.400 10 129957324 missense variant C/A;G;T snv
CUI: C0221199
Disease: Abnormal palmar creases
Abnormal palmar creases 		0.700 1.000 1 2017 2017
dbSNP: rs1057519389
rs1057519389
EBF3
0.695 0.400 10 129957324 missense variant C/A;G;T snv
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		0.700 1.000 1 2017 2017
dbSNP: rs1057519389
rs1057519389
EBF3
0.695 0.400 10 129957324 missense variant C/A;G;T snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 1 2017 2017
dbSNP: rs1057519389
rs1057519389
EBF3
0.695 0.400 10 129957324 missense variant C/A;G;T snv
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.700 1.000 1 2017 2017
dbSNP: rs1057519389
rs1057519389
EBF3
0.695 0.400 10 129957324 missense variant C/A;G;T snv
CUI: C0454641
Disease: Expressive language delay
Expressive language delay 		0.700 1.000 1 2017 2017