rs776969714, SEPSECS

N. diseases: 34
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 vocal cord morphology
CUI: C0262665
Disease: Abnormal vocal cord morphology
2 0.752 0.240 4 25145129 splice acceptor variant -/C delins 4.2E-05 0.700 0
Abnormality of the cerebral cortex
CUI: C4025701
Disease: Abnormality of the cerebral cortex
8 0.752 0.240 4 25145129 splice acceptor variant -/C delins 4.2E-05 0.700 0
Abnormality of the optic disc
CUI: C3808249
Disease: Abnormality of the optic disc
4 0.752 0.240 4 25145129 splice acceptor variant -/C delins 4.2E-05 0.700 0
Blepharoptosis
CUI: C0005745
Disease: Blepharoptosis
57 0.752 0.240 4 25145129 splice acceptor variant -/C delins 4.2E-05 0.700 0
Breathing dysregulation
CUI: C3808046
Disease: Breathing dysregulation
8 0.752 0.240 4 25145129 splice acceptor variant -/C delins 4.2E-05 0.700 0
Cerebral atrophy
CUI: C0235946
Disease: Cerebral atrophy
44 0.752 0.240 4 25145129 splice acceptor variant -/C delins 4.2E-05 0.700 0
Cerebral hypomyelination
CUI: C2677328
Disease: Cerebral hypomyelination
6 0.752 0.240 4 25145129 splice acceptor variant -/C delins 4.2E-05 0.700 0
Cerebral hypoplasia
CUI: C1855330
Disease: Cerebral hypoplasia
4 0.752 0.240 4 25145129 splice acceptor variant -/C delins 4.2E-05 0.700 0
Cortical visual impairment
CUI: C4048268
Disease: Cortical visual impairment
27 0.752 0.240 4 25145129 splice acceptor variant -/C delins 4.2E-05 0.700 0
Decrease in appetite
CUI: C0232462
Disease: Decrease in appetite
7 0.752 0.240 4 25145129 splice acceptor variant -/C delins 4.2E-05 0.700 0
Decreased urine output
CUI: C3887784
Disease: Decreased urine output
2 0.752 0.240 4 25145129 splice acceptor variant -/C delins 4.2E-05 0.700 0
Dyskinetic syndrome
CUI: C0013384
Disease: Dyskinetic syndrome
42 0.752 0.240 4 25145129 splice acceptor variant -/C delins 4.2E-05 0.700 0
EEG with persistent abnormal rhythmic activity
CUI: C4021216
Disease: EEG with persistent abnormal rhythmic activity
2 0.752 0.240 4 25145129 splice acceptor variant -/C delins 4.2E-05 0.700 0
Exotropia
CUI: C0015310
Disease: Exotropia
23 0.752 0.240 4 25145129 splice acceptor variant -/C delins 4.2E-05 0.700 0
Feeding difficulties
CUI: C0232466
Disease: Feeding difficulties
62 0.752 0.240 4 25145129 splice acceptor variant -/C delins 4.2E-05 0.700 0
Gastrostomy tube feeding in infancy
CUI: C4023342
Disease: Gastrostomy tube feeding in infancy
19 0.752 0.240 4 25145129 splice acceptor variant -/C delins 4.2E-05 0.700 0
Hand clenching
CUI: C0239815
Disease: Hand clenching
9 0.752 0.240 4 25145129 splice acceptor variant -/C delins 4.2E-05 0.700 0
Hyperhidrosis disorder
CUI: C0020458
Disease: Hyperhidrosis disorder
7 0.752 0.240 4 25145129 splice acceptor variant -/C delins 4.2E-05 0.700 0
Hypoglycemia
CUI: C0020615
Disease: Hypoglycemia
42 0.752 0.240 4 25145129 splice acceptor variant -/C delins 4.2E-05 0.700 0
Hypoplasia of corpus callosum
CUI: C0344482
Disease: Hypoplasia of corpus callosum
49 0.752 0.240 4 25145129 splice acceptor variant -/C delins 4.2E-05 0.700 0
Irritation - emotion
CUI: C2700617
Disease: Irritation - emotion
14 0.752 0.240 4 25145129 splice acceptor variant -/C delins 4.2E-05 0.700 0
Muscle Weakness
CUI: C0151786
Disease: Muscle Weakness
87 0.752 0.240 4 25145129 splice acceptor variant -/C delins 4.2E-05 0.700 0
Myopathic facies
CUI: C0332615
Disease: Myopathic facies
15 0.752 0.240 4 25145129 splice acceptor variant -/C delins 4.2E-05 0.700 0
Nystagmus
CUI: C0028738
Disease: Nystagmus
95 0.752 0.240 4 25145129 splice acceptor variant -/C delins 4.2E-05 0.700 0
Pediatric failure to thrive
CUI: C2315100
Disease: Pediatric failure to thrive
122 0.752 0.240 4 25145129 splice acceptor variant -/C delins 4.2E-05 0.700 0