Source: CLINVAR

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: C1835764
Disease: Vertebral arch anomaly
Vertebral arch anomaly 		0.700 1.000 1 2016 2016
dbSNP: rs587777893
rs587777893
MTOR
0.658 0.240 1 11128107 missense variant G/A;T snv
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		0.700 1.000 1 2016 2016
dbSNP: rs587777893
rs587777893
MTOR
0.658 0.240 1 11128107 missense variant G/A;T snv
CUI: C3278658
Disease: Linear hyperpigmentation
Linear hyperpigmentation 		0.700 1.000 1 2016 2016
dbSNP: rs587777893
rs587777893
MTOR
0.658 0.240 1 11128107 missense variant G/A;T snv
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		0.700 1.000 1 2016 2016
dbSNP: rs587777893
rs587777893
MTOR
0.658 0.240 1 11128107 missense variant G/A;T snv
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 1.000 1 2016 2016
dbSNP: rs587777893
rs587777893
MTOR
0.658 0.240 1 11128107 missense variant G/A;T snv
CUI: C4023681
Disease: Delayed fine motor development
Delayed fine motor development 		0.700 1.000 1 2016 2016
dbSNP: rs587777893
rs587777893
MTOR
0.658 0.240 1 11128107 missense variant G/A;T snv
CUI: C1851833
Disease: Premature birth following premature rupture of fetal membranes
Premature birth following premature rupture of fetal membranes 		0.700 1.000 1 2016 2016
dbSNP: rs587777893
rs587777893
MTOR
0.658 0.240 1 11128107 missense variant G/A;T snv
CUI: C3532947
Disease: Severe receptive language delay
Severe receptive language delay 		0.700 1.000 1 2016 2016
dbSNP: rs587777893
rs587777893
MTOR
0.658 0.240 1 11128107 missense variant G/A;T snv
CUI: C4022871
Disease: Extra-axial cerebrospinal fluid accumulation
Extra-axial cerebrospinal fluid accumulation 		0.700 1.000 1 2016 2016
dbSNP: rs587777893
rs587777893
MTOR
0.658 0.240 1 11128107 missense variant G/A;T snv
CUI: C0431369
Disease: Dysgenesis of corpus callosum
Dysgenesis of corpus callosum 		0.700 1.000 1 2016 2016
dbSNP: rs587777893
rs587777893
MTOR
0.658 0.240 1 11128107 missense variant G/A;T snv
CUI: C0266491
Disease: Neuronal heterotopia
Neuronal heterotopia 		0.700 1.000 1 2016 2016
dbSNP: rs587777893
rs587777893
MTOR
0.658 0.240 1 11128107 missense variant G/A;T snv
CUI: C0239234
Disease: Low set ears
Low set ears 		0.700 1.000 1 2016 2016
dbSNP: rs587777893
rs587777893
MTOR
0.658 0.240 1 11128107 missense variant G/A;T snv
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria 		0.700 1.000 1 2016 2016
dbSNP: rs587777893
rs587777893
MTOR
0.658 0.240 1 11128107 missense variant G/A;T snv
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		0.700 1.000 1 2016 2016
dbSNP: rs587777893
rs587777893
MTOR
0.658 0.240 1 11128107 missense variant G/A;T snv
CUI: C1837249
Disease: Malformations of Cortical Development, Group II
Malformations of Cortical Development, Group II 		0.700 1.000 1 2016 2016
dbSNP: rs587777893
rs587777893
MTOR
0.658 0.240 1 11128107 missense variant G/A;T snv
CUI: C0151526
Disease: Premature Birth
Premature Birth 		0.700 1.000 1 2016 2016
dbSNP: rs587777893
rs587777893
MTOR
0.658 0.240 1 11128107 missense variant G/A;T snv
CUI: C4024854
Disease: Irregular hyperpigmentation of back
Irregular hyperpigmentation of back 		0.700 1.000 1 2016 2016
dbSNP: rs587777893
rs587777893
MTOR
0.658 0.240 1 11128107 missense variant G/A;T snv
CUI: C3806616
Disease: Macular hypopigmented whorls, streaks, and patches
Macular hypopigmented whorls, streaks, and patches 		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: C1850853
Disease: Hyperextensibility at wrists
Hyperextensibility at wrists 		0.700 0
dbSNP: rs587777893
rs587777893
MTOR
0.658 0.240 1 11128107 missense variant G/A;T snv
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment 		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: 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: C0008519
Disease: Ectopic Tissue
Ectopic Tissue 		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