EBF3, EBF transcription factor 3, 253738

N. diseases: 124; N. variants: 15
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: rs1057519389
rs1057519389 		0.695 0.400 10 129957324 missense variant C/A;G;T snv
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		0.700 0
dbSNP: rs1057519389
rs1057519389 		0.695 0.400 10 129957324 missense variant C/A;G;T snv
CUI: C4012968
Disease: Mild global developmental delay
Mild global developmental delay 		0.700 0
dbSNP: rs1057519437
rs1057519437 		0.851 0.240 10 129957300 missense variant C/T snv
CUI: C4310618
Disease: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME 		0.700 0
dbSNP: rs1057519437
rs1057519437 		0.851 0.240 10 129957300 missense variant C/T snv
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		0.700 0
dbSNP: rs1057519518
rs1057519518 		1.000 10 129963462 missense variant T/C snv
CUI: C4310618
Disease: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME 		0.800 0
dbSNP: rs1057519519
rs1057519519 		1.000 10 129958997 missense variant T/C snv
CUI: C4310618
Disease: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME 		0.800 0
dbSNP: rs1057519520
rs1057519520 		1.000 10 129877825 missense variant C/A snv
CUI: C4310618
Disease: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME 		0.800 0
dbSNP: rs1057519521
rs1057519521 		0.851 0.120 10 129963375 frameshift variant TCTC/- del
CUI: C4310618
Disease: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME 		0.700 0
dbSNP: rs1057519521
rs1057519521 		0.851 0.120 10 129963375 frameshift variant TCTC/- del
CUI: C0262361
Disease: Growth abnormality
Growth abnormality 		0.700 0
dbSNP: rs1057519521
rs1057519521 		0.851 0.120 10 129963375 frameshift variant TCTC/- del
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1057519521
rs1057519521 		0.851 0.120 10 129963375 frameshift variant TCTC/- del
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0
dbSNP: rs1057519522
rs1057519522 		1.000 10 129877788 stop gained G/A snv
CUI: C4310618
Disease: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME 		0.700 0
dbSNP: rs1554904330
rs1554904330 		1.000 10 129877811 missense variant C/T snv
CUI: C4310618
Disease: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME 		0.700 0
dbSNP: rs1554934855
rs1554934855 		1.000 10 129957258 missense variant C/T snv
CUI: C4310618
Disease: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME 		0.700 0
dbSNP: rs1564927062
rs1564927062 		1.000 10 129958957 missense variant CA/AG mnv
CUI: C4310618
Disease: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME 		0.700 0
dbSNP: rs1057519389
rs1057519389 		0.695 0.400 10 129957324 missense variant C/A;G;T snv
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1057519437
rs1057519437 		0.851 0.240 10 129957300 missense variant C/T snv
CUI: C0266313
Disease: Allanson Pantzar McLeod syndrome
Allanson Pantzar McLeod syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1057519389
rs1057519389 		0.695 0.400 10 129957324 missense variant C/A;G;T snv
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1057519389
rs1057519389 		0.695 0.400 10 129957324 missense variant C/A;G;T snv
CUI: C0031900
Disease: Pierre Robin Syndrome
Pierre Robin Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 1.000 2 2017 2017
dbSNP: rs886040976
rs886040976 		1.000 0.120 10 129877827 missense variant T/C snv
CUI: C0221060
Disease: Mobius Syndrome
Mobius Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs1057519389
rs1057519389 		0.695 0.400 10 129957324 missense variant C/A;G;T snv
CUI: C0431447
Disease: Synophrys
Synophrys 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1057519389
rs1057519389 		0.695 0.400 10 129957324 missense variant C/A;G;T snv
CUI: C0221199
Disease: Abnormal palmar creases
Abnormal palmar creases 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1057519389
rs1057519389 		0.695 0.400 10 129957324 missense variant C/A;G;T snv
CUI: C0020608
Disease: Hypodontia
Hypodontia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 0
dbSNP: rs1057519389
rs1057519389 		0.695 0.400 10 129957324 missense variant C/A;G;T snv
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		Digestive System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1057519389
rs1057519389 		0.695 0.400 10 129957324 missense variant C/A;G;T snv
CUI: C0038379
Disease: Strabismus
Strabismus 		Eye Diseases; Nervous System Diseases 0.700 1.000 1 2017 2017