Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs587777893
rs587777893
MTOR
0.658 0.240 1 11128107 missense variant G/A;T snv
CUI: C1827524
Disease: Wide spaced nipples
Wide spaced nipples 		0.700 0
dbSNP: rs587777893
rs587777893
MTOR
0.658 0.240 1 11128107 missense variant G/A;T snv
CUI: C1849683
Disease: No social interaction
No social interaction 		0.700 0
dbSNP: rs587777893
rs587777893
MTOR
0.658 0.240 1 11128107 missense variant G/A;T snv
CUI: C3887898
Disease: Infantile Spasm
Infantile Spasm 		0.700 0
dbSNP: rs587777893
rs587777893
MTOR
0.658 0.240 1 11128107 missense variant G/A;T snv
CUI: C1854882
Disease: Absent speech
Absent speech 		0.700 0
dbSNP: rs587777893
rs587777893
MTOR
0.658 0.240 1 11128107 missense variant G/A;T snv
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		0.700 0
dbSNP: rs587777893
rs587777893
MTOR
0.658 0.240 1 11128107 missense variant G/A;T snv
CUI: C0029128
Disease: Optic Disk Drusen
Optic Disk Drusen 		0.700 0
dbSNP: rs587777893
rs587777893
MTOR
0.658 0.240 1 11128107 missense variant G/A;T snv
CUI: C0152207
Disease: Alternating Exotropia
Alternating Exotropia 		0.700 0
dbSNP: rs587777893
rs587777893
MTOR
0.658 0.240 1 11128107 missense variant G/A;T snv
CUI: C4024877
Disease: Hyperpigmented/hypopigmented macules
Hyperpigmented/hypopigmented macules 		0.700 0
dbSNP: rs587777893
rs587777893
MTOR
0.658 0.240 1 11128107 missense variant G/A;T snv
CUI: C0008519
Disease: Ectopic Tissue
Ectopic Tissue 		0.700 0
dbSNP: rs786205165
rs786205165
MTOR
0.882 0.120 1 11157173 missense variant C/A;T snv
CUI: C4225259
Disease: SMITH-KINGSMORE SYNDROME
SMITH-KINGSMORE SYNDROME 		0.700 0
dbSNP: rs863225264
rs863225264
MTOR
0.827 0.240 1 11130747 missense variant C/T snv
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.700 0
dbSNP: rs869312666
rs869312666
MTOR
0.925 0.160 1 11129789 missense variant A/C snv
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.700 0
dbSNP: rs869312666
rs869312666
MTOR
0.925 0.160 1 11129789 missense variant A/C snv
CUI: C0266617
Disease: Congenital anomaly of face
Congenital anomaly of face 		0.700 0
dbSNP: rs869312666
rs869312666
MTOR
0.925 0.160 1 11129789 missense variant A/C snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs869312671
rs869312671
MTOR ; MTOR-AS1
0.882 0.160 1 11144735 missense variant C/T snv
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 0
dbSNP: rs869312671
rs869312671
MTOR ; MTOR-AS1
0.882 0.160 1 11144735 missense variant C/T snv
CUI: C4225259
Disease: SMITH-KINGSMORE SYNDROME
SMITH-KINGSMORE SYNDROME 		0.800 0
dbSNP: rs869312671
rs869312671
MTOR ; MTOR-AS1
0.882 0.160 1 11144735 missense variant C/T snv
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		0.700 0
dbSNP: rs869312671
rs869312671
MTOR ; MTOR-AS1
0.882 0.160 1 11144735 missense variant C/T snv
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.700 0
dbSNP: rs869312671
rs869312671
MTOR ; MTOR-AS1
0.882 0.160 1 11144735 missense variant C/T snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs878855328
rs878855328
MTOR
0.882 0.120 1 11117039 missense variant C/T snv
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.700 0
dbSNP: rs878855328
rs878855328
MTOR
0.882 0.120 1 11117039 missense variant C/T snv
CUI: C3887548
Disease: Central Apnea
Central Apnea 		0.700 0
dbSNP: rs878855328
rs878855328
MTOR
0.882 0.120 1 11117039 missense variant C/T snv
CUI: C0520679
Disease: Sleep Apnea, Obstructive
Sleep Apnea, Obstructive 		0.700 0
dbSNP: rs913197212
rs913197212
MTOR
1.000 0.080 1 11238533 missense variant C/T snv 2.8E-05 1.4E-05
CUI: C1846385
Disease: FOCAL CORTICAL DYSPLASIA OF TAYLOR
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		0.700 0
dbSNP: rs2295079
rs2295079
MTOR
0.925 0.080 1 11262508 5 prime UTR variant C/G snv 0.54
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 < 0.001 1 2019 2019
dbSNP: rs2295079
rs2295079
MTOR
0.925 0.080 1 11262508 5 prime UTR variant C/G snv 0.54
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 < 0.001 1 2019 2019