rs1553920379, PPP3CA

N. diseases: 27
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 coordination
CUI: C0520966
Disease: Abnormal coordination
4 0.776 0.160 4 101032294 frameshift variant -/AGTA delins 0.700 0
Abnormal delivery
CUI: C0549629
Disease: Abnormal delivery
37 0.776 0.160 4 101032294 frameshift variant -/AGTA delins 0.700 0
Abnormality of temperature regulation
CUI: C1832160
Disease: Abnormality of temperature regulation
3 0.776 0.160 4 101032294 frameshift variant -/AGTA delins 0.700 0
Acid reflux
CUI: C4317146
Disease: Acid reflux
58 0.776 0.160 4 101032294 frameshift variant -/AGTA delins 0.700 0
Autistic Disorder
CUI: C0004352
Disease: Autistic Disorder
395 0.776 0.160 4 101032294 frameshift variant -/AGTA delins 0.700 0
Constipation
CUI: C0009806
Disease: Constipation
57 0.776 0.160 4 101032294 frameshift variant -/AGTA delins 0.700 0
Developmental regression
CUI: C1836830
Disease: Developmental regression
80 0.776 0.160 4 101032294 frameshift variant -/AGTA delins 0.700 0
Echolalia
CUI: C0013528
Disease: Echolalia
4 0.776 0.160 4 101032294 frameshift variant -/AGTA delins 0.700 0
EEG with generalized slow activity
CUI: C4021217
Disease: EEG with generalized slow activity
6 0.776 0.160 4 101032294 frameshift variant -/AGTA delins 0.700 0
Epileptic encephalopathy
CUI: C0543888
Disease: Epileptic encephalopathy
126 0.776 0.160 4 101032294 frameshift variant -/AGTA delins 0.700 0
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1
CUI: C4540199
Disease: EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1
8 0.776 0.160 4 101032294 frameshift variant -/AGTA delins 0.700 0
Gait imbalance
CUI: C1836150
Disease: Gait imbalance
24 0.776 0.160 4 101032294 frameshift variant -/AGTA delins 0.700 0
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.776 0.160 4 101032294 frameshift variant -/AGTA delins 0.700 0
Generalized myoclonic seizures
CUI: C4021759
Disease: Generalized myoclonic seizures
8 0.776 0.160 4 101032294 frameshift variant -/AGTA delins 0.700 0
Generalized seizures
CUI: C0234533
Disease: Generalized seizures
13 0.776 0.160 4 101032294 frameshift variant -/AGTA delins 0.700 0
Generalized tonic seizures
CUI: C1836508
Disease: Generalized tonic seizures
3 0.776 0.160 4 101032294 frameshift variant -/AGTA delins 0.700 0
Hyperactive behavior
CUI: C0424295
Disease: Hyperactive behavior
112 0.776 0.160 4 101032294 frameshift variant -/AGTA delins 0.700 0
Hyperreflexia
CUI: C0151889
Disease: Hyperreflexia
19 0.776 0.160 4 101032294 frameshift variant -/AGTA delins 0.700 0
Impaired pain sensation
CUI: C1837522
Disease: Impaired pain sensation
4 0.776 0.160 4 101032294 frameshift variant -/AGTA delins 0.700 0
Language Disorders
CUI: C0023015
Disease: Language Disorders
25 0.776 0.160 4 101032294 frameshift variant -/AGTA delins 0.700 0
Moderate intellectual disability
CUI: C0026351
Disease: Moderate intellectual disability
94 0.776 0.160 4 101032294 frameshift variant -/AGTA delins 0.700 0
Overweight
CUI: C0497406
Disease: Overweight
3 0.776 0.160 4 101032294 frameshift variant -/AGTA delins 0.700 0
Poor fine motor coordination
CUI: C1867864
Disease: Poor fine motor coordination
3 0.776 0.160 4 101032294 frameshift variant -/AGTA delins 0.700 0
Primary Caesarian section
CUI: C4072903
Disease: Primary Caesarian section
15 0.776 0.160 4 101032294 frameshift variant -/AGTA delins 0.700 0
Stereotypic Movement Disorder
CUI: C0038273
Disease: Stereotypic Movement Disorder
26 0.776 0.160 4 101032294 frameshift variant -/AGTA delins 0.700 0