rs1555565492, RAI1

N. diseases: 18
Source: CURATED ×
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 hypothalamus morphology
CUI: C4021095
Disease: Abnormal hypothalamus morphology
1 0.776 0.160 17 17795417 frameshift variant -/G delins 0.700 0
Alpha-EEG
CUI: C4023494
Disease: Alpha-EEG
1 0.776 0.160 17 17795417 frameshift variant -/G delins 0.700 0
Attention deficit hyperactivity disorder
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
208 0.776 0.160 17 17795417 frameshift variant -/G delins 0.700 0
Autistic Disorder
CUI: C0004352
Disease: Autistic Disorder
181 0.776 0.160 17 17795417 frameshift variant -/G delins 0.700 0
Beta-EEG
CUI: C4023493
Disease: Beta-EEG
1 0.776 0.160 17 17795417 frameshift variant -/G delins 0.700 0
Broad phalanges of the hand
CUI: C4021391
Disease: Broad phalanges of the hand
1 0.776 0.160 17 17795417 frameshift variant -/G delins 0.700 0
Coarse facial features
CUI: C1845847
Disease: Coarse facial features
33 0.776 0.160 17 17795417 frameshift variant -/G delins 0.700 0
Dysarthria
CUI: C0013362
Disease: Dysarthria
42 0.776 0.160 17 17795417 frameshift variant -/G delins 0.700 0
EEG with focal epileptiform discharges
CUI: C4021199
Disease: EEG with focal epileptiform discharges
1 0.776 0.160 17 17795417 frameshift variant -/G delins 0.700 0
Impulsive Behavior
CUI: C0021125
Disease: Impulsive Behavior
10 0.776 0.160 17 17795417 frameshift variant -/G delins 0.700 0
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.776 0.160 17 17795417 frameshift variant -/G delins 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
417 0.776 0.160 17 17795417 frameshift variant -/G delins 0.700 0
Short palm
CUI: C1843108
Disease: Short palm
13 0.776 0.160 17 17795417 frameshift variant -/G delins 0.700 0
Small hand
CUI: C0575802
Disease: Small hand
31 0.776 0.160 17 17795417 frameshift variant -/G delins 0.700 0
Smith-Magenis syndrome
CUI: C0795864
Disease: Smith-Magenis syndrome
7 0.776 0.160 17 17795417 frameshift variant -/G delins 0.700 0
Stereotypical hand wringing
CUI: C4023014
Disease: Stereotypical hand wringing
5 0.776 0.160 17 17795417 frameshift variant -/G delins 0.700 0
Tic, Vocal
CUI: C0751901
Disease: Tic, Vocal
1 0.776 0.160 17 17795417 frameshift variant -/G delins 0.700 0
Tonic - clonic seizures
CUI: C0494475
Disease: Tonic - clonic seizures
21 0.776 0.160 17 17795417 frameshift variant -/G delins 0.700 0