rs1057519389, EBF3

N. diseases: 46
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Abnormal palmar creases
CUI: C0221199
Disease: Abnormal palmar creases
3 0.695 0.400 10 129957324 missense variant C/A;G;T snv 0.700 1.000 1 2017 2017
Abnormality of facial musculature
CUI: C4025865
Disease: Abnormality of facial musculature
1 0.695 0.400 10 129957324 missense variant C/A;G;T snv 0.700 1.000 1 2017 2017
Absent speech
CUI: C1854882
Disease: Absent speech
72 0.695 0.400 10 129957324 missense variant C/A;G;T snv 0.700 0
Anteverted nostril
CUI: C1840077
Disease: Anteverted nostril
35 0.695 0.400 10 129957324 missense variant C/A;G;T snv 0.700 0
Aplasia/Hypoplasia of the cerebellar vermis
CUI: C1855676
Disease: Aplasia/Hypoplasia of the cerebellar vermis
2 0.695 0.400 10 129957324 missense variant C/A;G;T snv 0.700 1.000 1 2017 2017
Apraxias
CUI: C0003635
Disease: Apraxias
9 0.695 0.400 10 129957324 missense variant C/A;G;T snv 0.700 1.000 1 2017 2017
Ataxia
CUI: C0004134
Disease: Ataxia
68 0.695 0.400 10 129957324 missense variant C/A;G;T snv 0.700 1.000 1 2017 2017
Autistic behavior
CUI: C0856975
Disease: Autistic behavior
78 0.695 0.400 10 129957324 missense variant C/A;G;T snv 0.700 0
Cerebellar Ataxia
CUI: C0007758
Disease: Cerebellar Ataxia
120 0.695 0.400 10 129957324 missense variant C/A;G;T snv 0.700 1.000 1 2017 2017
Clinodactyly of the 5th finger
CUI: C1850049
Disease: Clinodactyly of the 5th finger
39 0.695 0.400 10 129957324 missense variant C/A;G;T snv 0.700 1.000 1 2017 2017
Cryptorchidism
CUI: C0010417
Disease: Cryptorchidism
80 0.695 0.400 10 129957324 missense variant C/A;G;T snv 0.700 0
Deglutition Disorders
CUI: C0011168
Disease: Deglutition Disorders
50 0.695 0.400 10 129957324 missense variant C/A;G;T snv 0.700 1.000 1 2017 2017
Dilated ventricles (finding)
CUI: C3278923
Disease: Dilated ventricles (finding)
32 0.695 0.400 10 129957324 missense variant C/A;G;T snv 0.700 0
Downturned corners of mouth
CUI: C1866195
Disease: Downturned corners of mouth
14 0.695 0.400 10 129957324 missense variant C/A;G;T snv 0.700 0
Dysarthria
CUI: C0013362
Disease: Dysarthria
54 0.695 0.400 10 129957324 missense variant C/A;G;T snv 0.700 1.000 1 2017 2017
Esotropia
CUI: C0014877
Disease: Esotropia
39 0.695 0.400 10 129957324 missense variant C/A;G;T snv 0.700 0
Exotropia
CUI: C0015310
Disease: Exotropia
23 0.695 0.400 10 129957324 missense variant C/A;G;T snv 0.700 0
Expressive language delay
CUI: C0454641
Disease: Expressive language delay
25 0.695 0.400 10 129957324 missense variant C/A;G;T snv 0.700 1.000 1 2017 2017
External genital hypoplasia
CUI: C1855333
Disease: External genital hypoplasia
2 0.695 0.400 10 129957324 missense variant C/A;G;T snv 0.700 0
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.695 0.400 10 129957324 missense variant C/A;G;T snv 0.700 1.000 1 2017 2017
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.695 0.400 10 129957324 missense variant C/A;G;T snv 0.700 1.000 1 2017 2017
Hypodontia
CUI: C0020608
Disease: Hypodontia
48 0.695 0.400 10 129957324 missense variant C/A;G;T snv 0.700 0
Hypoplastic feet
CUI: C1848673
Disease: Hypoplastic feet
21 0.695 0.400 10 129957324 missense variant C/A;G;T snv 0.700 1.000 1 2017 2017
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME
CUI: C4310618
Disease: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME
12 0.695 0.400 10 129957324 missense variant C/A;G;T snv 0.800 0
Impaired pain sensation
CUI: C1837522
Disease: Impaired pain sensation
4 0.695 0.400 10 129957324 missense variant C/A;G;T snv 0.700 1.000 1 2017 2017