rs1131692231, CYFIP2

N. diseases: 13
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.
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65
CUI: C4693925
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65
2 0.827 0.280 5 157294834 missense variant C/T snv 0.800 1.000 1 2018 2018
Abnormality of the gastrointestinal tract
CUI: C4023588
Disease: Abnormality of the gastrointestinal tract
1 0.827 0.280 5 157294834 missense variant C/T snv 0.700 0
Abnormality of the skeletal system
CUI: C4021790
Disease: Abnormality of the skeletal system
18 0.827 0.280 5 157294834 missense variant C/T snv 0.700 0
Absent speech
CUI: C1854882
Disease: Absent speech
72 0.827 0.280 5 157294834 missense variant C/T snv 0.700 0
Chronic otitis media
CUI: C0271441
Disease: Chronic otitis media
6 0.827 0.280 5 157294834 missense variant C/T snv 0.700 0
Delayed speech and language development
CUI: C0454644
Disease: Delayed speech and language development
192 0.827 0.280 5 157294834 missense variant C/T snv 0.700 0
Dystonia
CUI: C0013421
Disease: Dystonia
97 0.827 0.280 5 157294834 missense variant C/T snv 0.700 0
Joint laxity
CUI: C0086437
Disease: Joint laxity
15 0.827 0.280 5 157294834 missense variant C/T snv 0.700 0
Muscular hypotonia of the trunk
CUI: C1853743
Disease: Muscular hypotonia of the trunk
25 0.827 0.280 5 157294834 missense variant C/T snv 0.700 0
Nephrolithiasis
CUI: C0392525
Disease: Nephrolithiasis
99 0.827 0.280 5 157294834 missense variant C/T snv 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.827 0.280 5 157294834 missense variant C/T snv 0.700 0
Severe intellectual disability
CUI: C0036857
Disease: Severe intellectual disability
74 0.827 0.280 5 157294834 missense variant C/T snv 0.700 0
Sleep disturbances
CUI: C0037317
Disease: Sleep disturbances
74 0.827 0.280 5 157294834 missense variant C/T snv 0.700 0