Source: CURATED

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: C1860236
Disease: Irregular hyperpigmentation
Irregular 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: 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: C0566899
Disease: Small labia majora
Small labia majora 		0.700 1.000 1 2016 2016
dbSNP: rs587777893
rs587777893
MTOR
0.658 0.240 1 11128107 missense variant G/A;T snv
CUI: C0009806
Disease: Constipation
Constipation 		0.700 1.000 1 2016 2016
dbSNP: rs587777893
rs587777893
MTOR
0.658 0.240 1 11128107 missense variant G/A;T snv
CUI: C1860450
Disease: Calcaneovalgus deformity
Calcaneovalgus deformity 		0.700 1.000 1 2016 2016
dbSNP: rs587777893
rs587777893
MTOR
0.658 0.240 1 11128107 missense variant G/A;T snv
CUI: C0009451
Disease: Communicating Hydrocephalus
Communicating Hydrocephalus 		0.700 1.000 1 2016 2016
dbSNP: rs587777893
rs587777893
MTOR
0.658 0.240 1 11128107 missense variant G/A;T snv
CUI: C1851085
Disease: Severe expressive language delay
Severe expressive 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: C1837658
Disease: Gross motor development delay
Gross motor development 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: C0085207
Disease: Gestational Diabetes
Gestational Diabetes 		0.700 1.000 1 2016 2016
dbSNP: rs587777893
rs587777893
MTOR
0.658 0.240 1 11128107 missense variant G/A;T snv
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia 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: 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: 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: C2936786
Disease: Aqueductal Stenosis
Aqueductal Stenosis 		0.700 1.000 1 2016 2016
dbSNP: rs587777893
rs587777893
MTOR
0.658 0.240 1 11128107 missense variant G/A;T snv
CUI: C1844505
Disease: Pointed chin
Pointed chin 		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: C4476709
Disease: Delayed ability to stand
Delayed ability to stand 		0.700 1.000 1 2016 2016
dbSNP: rs587777893
rs587777893
MTOR
0.658 0.240 1 11128107 missense variant G/A;T snv
CUI: C4476710
Disease: Delayed ability to sit
Delayed ability to sit 		0.700 1.000 1 2016 2016
dbSNP: rs587777893
rs587777893
MTOR
0.658 0.240 1 11128107 missense variant G/A;T snv
CUI: C4021217
Disease: EEG with generalized slow activity
EEG with generalized slow activity 		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: C0020255
Disease: Hydrocephalus
Hydrocephalus 		0.700 0
dbSNP: rs587777893
rs587777893
MTOR
0.658 0.240 1 11128107 missense variant G/A;T snv
CUI: C0027092
Disease: Myopia
Myopia 		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: C1527366
Disease: Salaam Seizures
Salaam Seizures 		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: C3805727
Disease: MEGALENCEPHALY, AUTOSOMAL DOMINANT
MEGALENCEPHALY, AUTOSOMAL DOMINANT 		0.700 0