rs587777893, MTOR

N. diseases: 67
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.
Absent speech
CUI: C1854882
Disease: Absent speech
72 0.658 0.240 1 11128107 missense variant G/A;T snv 0.700 0
Acid reflux
CUI: C4317146
Disease: Acid reflux
58 0.658 0.240 1 11128107 missense variant G/A;T snv 0.700 0
Alternating Exotropia
CUI: C0152207
Disease: Alternating Exotropia
1 0.658 0.240 1 11128107 missense variant G/A;T snv 0.700 0
Cortical visual impairment
CUI: C4048268
Disease: Cortical visual impairment
27 0.658 0.240 1 11128107 missense variant G/A;T snv 0.700 0
Ectopic Tissue
CUI: C0008519
Disease: Ectopic Tissue
4 0.658 0.240 1 11128107 missense variant G/A;T snv 0.700 0
EEG with generalized slow activity
CUI: C4021217
Disease: EEG with generalized slow activity
6 0.658 0.240 1 11128107 missense variant G/A;T snv 0.700 0
Hydrocephalus
CUI: C0020255
Disease: Hydrocephalus
37 0.658 0.240 1 11128107 missense variant G/A;T snv 0.700 0
Hyperextensibility at elbow
CUI: C4023808
Disease: Hyperextensibility at elbow
7 0.658 0.240 1 11128107 missense variant G/A;T snv 0.700 0
Hyperextensibility at wrists
CUI: C1850853
Disease: Hyperextensibility at wrists
1 0.658 0.240 1 11128107 missense variant G/A;T snv 0.700 0
Hyperpigmented/hypopigmented macules
1 0.658 0.240 1 11128107 missense variant G/A;T snv 0.700 0
Hypopigmentation disorder
CUI: C0162835
Disease: Hypopigmentation disorder
15 0.658 0.240 1 11128107 missense variant G/A;T snv 0.700 0
Infantile Spasm
CUI: C3887898
Disease: Infantile Spasm
39 0.658 0.240 1 11128107 missense variant G/A;T snv 0.700 0
Irritation - emotion
CUI: C2700617
Disease: Irritation - emotion
14 0.658 0.240 1 11128107 missense variant G/A;T snv 0.700 0
Long narrow head
CUI: C0221358
Disease: Long narrow head
26 0.658 0.240 1 11128107 missense variant G/A;T snv 0.700 0
Macular hypopigmented whorls, streaks, and patches
1 0.658 0.240 1 11128107 missense variant G/A;T snv 0.700 0
MEGALENCEPHALY, AUTOSOMAL DOMINANT
CUI: C3805727
Disease: MEGALENCEPHALY, AUTOSOMAL DOMINANT
5 0.658 0.240 1 11128107 missense variant G/A;T snv 0.700 0
Myopia
CUI: C0027092
Disease: Myopia
167 0.658 0.240 1 11128107 missense variant G/A;T snv 0.700 0
No social interaction
CUI: C1849683
Disease: No social interaction
3 0.658 0.240 1 11128107 missense variant G/A;T snv 0.700 0
Optic Disk Drusen
CUI: C0029128
Disease: Optic Disk Drusen
3 0.658 0.240 1 11128107 missense variant G/A;T snv 0.700 0
Profound global developmental delay
CUI: C3553450
Disease: Profound global developmental delay
20 0.658 0.240 1 11128107 missense variant G/A;T snv 0.700 0
Prominent forehead
CUI: C1837260
Disease: Prominent forehead
25 0.658 0.240 1 11128107 missense variant G/A;T snv 0.700 0
Salaam Seizures
CUI: C1527366
Disease: Salaam Seizures
9 0.658 0.240 1 11128107 missense variant G/A;T snv 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.658 0.240 1 11128107 missense variant G/A;T snv 0.700 0
Tonic - clonic seizures
CUI: C0494475
Disease: Tonic - clonic seizures
32 0.658 0.240 1 11128107 missense variant G/A;T snv 0.700 0
Wide spaced nipples
CUI: C1827524
Disease: Wide spaced nipples
19 0.658 0.240 1 11128107 missense variant G/A;T snv 0.700 0