RAI1, retinoic acid induced 1, 10743

N. diseases: 205; N. variants: 22
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: rs104894633
rs104894633 		1.000 0.080 17 17798371 missense variant G/A snv
CUI: C0795864
Disease: Smith-Magenis syndrome
Smith-Magenis syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs104894634
rs104894634 		1.000 0.080 17 17797633 missense variant A/C;G snv
CUI: C0795864
Disease: Smith-Magenis syndrome
Smith-Magenis syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1135401792
rs1135401792 		1.000 0.080 17 17795909 frameshift variant AAGA/- delins
CUI: C0795864
Disease: Smith-Magenis syndrome
Smith-Magenis syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1555565492
rs1555565492 		0.776 0.160 17 17795417 frameshift variant -/G delins
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		Mental Disorders 0.700 0
dbSNP: rs1555565492
rs1555565492 		0.776 0.160 17 17795417 frameshift variant -/G delins
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1555565492
rs1555565492 		0.776 0.160 17 17795417 frameshift variant -/G delins
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1555565492
rs1555565492 		0.776 0.160 17 17795417 frameshift variant -/G delins
CUI: C0575802
Disease: Small hand
Small hand 		0.700 0
dbSNP: rs1555565492
rs1555565492 		0.776 0.160 17 17795417 frameshift variant -/G delins
CUI: C4021095
Disease: Abnormal hypothalamus morphology
Abnormal hypothalamus morphology 		0.700 0
dbSNP: rs1555565492
rs1555565492 		0.776 0.160 17 17795417 frameshift variant -/G delins
CUI: C0795864
Disease: Smith-Magenis syndrome
Smith-Magenis syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1555565492
rs1555565492 		0.776 0.160 17 17795417 frameshift variant -/G delins
CUI: C0751901
Disease: Tic, Vocal
Tic, Vocal 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1555565492
rs1555565492 		0.776 0.160 17 17795417 frameshift variant -/G delins
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs1555565492
rs1555565492 		0.776 0.160 17 17795417 frameshift variant -/G delins
CUI: C1843108
Disease: Short palm
Short palm 		0.700 0
dbSNP: rs1555565492
rs1555565492 		0.776 0.160 17 17795417 frameshift variant -/G delins
CUI: C0013362
Disease: Dysarthria
Dysarthria 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1555565492
rs1555565492 		0.776 0.160 17 17795417 frameshift variant -/G delins
CUI: C4023493
Disease: Beta-EEG
Beta-EEG 		0.700 0
dbSNP: rs1555565492
rs1555565492 		0.776 0.160 17 17795417 frameshift variant -/G delins
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs1555565492
rs1555565492 		0.776 0.160 17 17795417 frameshift variant -/G delins
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		Mental Disorders 0.700 0
dbSNP: rs1555565492
rs1555565492 		0.776 0.160 17 17795417 frameshift variant -/G delins
CUI: C4021391
Disease: Broad phalanges of the hand
Broad phalanges of the hand 		0.700 0
dbSNP: rs1555565492
rs1555565492 		0.776 0.160 17 17795417 frameshift variant -/G delins
CUI: C4021199
Disease: EEG with focal epileptiform discharges
EEG with focal epileptiform discharges 		0.700 0
dbSNP: rs1555565492
rs1555565492 		0.776 0.160 17 17795417 frameshift variant -/G delins
CUI: C4023494
Disease: Alpha-EEG
Alpha-EEG 		0.700 0
dbSNP: rs1555565492
rs1555565492 		0.776 0.160 17 17795417 frameshift variant -/G delins
CUI: C4023014
Disease: Stereotypical hand wringing
Stereotypical hand wringing 		Mental Disorders 0.700 0
dbSNP: rs1555565492
rs1555565492 		0.776 0.160 17 17795417 frameshift variant -/G delins
CUI: C0021125
Disease: Impulsive Behavior
Impulsive Behavior 		Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1555566042
rs1555566042 		1.000 0.080 17 17797619 frameshift variant -/A delins
CUI: C0795864
Disease: Smith-Magenis syndrome
Smith-Magenis syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs527236033
rs527236033 		1.000 0.080 17 17795221 stop gained G/A snv
CUI: C0795864
Disease: Smith-Magenis syndrome
Smith-Magenis syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs878853142
rs878853142 		1.000 0.200 17 17795278 frameshift variant GGCAT/- delins
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1555565243
rs1555565243 		1.000 17 17794617 frameshift variant CT/- delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 9 2004 2016