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.
Abnormal cortical gyration
CUI: C1856019
Disease: Abnormal cortical gyration
12 0.658 0.240 1 11128107 missense variant G/A;T snv 0.700 1.000 1 2016 2016
Anteverted nostril
CUI: C1840077
Disease: Anteverted nostril
35 0.658 0.240 1 11128107 missense variant G/A;T snv 0.700 1.000 1 2016 2016
Aqueductal Stenosis
CUI: C2936786
Disease: Aqueductal Stenosis
2 0.658 0.240 1 11128107 missense variant G/A;T snv 0.700 1.000 1 2016 2016
Calcaneovalgus deformity
CUI: C1860450
Disease: Calcaneovalgus deformity
2 0.658 0.240 1 11128107 missense variant G/A;T snv 0.700 1.000 1 2016 2016
Cervical spinal canal stenosis
CUI: C1844925
Disease: Cervical spinal canal stenosis
2 0.658 0.240 1 11128107 missense variant G/A;T snv 0.700 1.000 1 2016 2016
Communicating Hydrocephalus
CUI: C0009451
Disease: Communicating Hydrocephalus
1 0.658 0.240 1 11128107 missense variant G/A;T snv 0.700 1.000 1 2016 2016
Constipation
CUI: C0009806
Disease: Constipation
57 0.658 0.240 1 11128107 missense variant G/A;T snv 0.700 1.000 1 2016 2016
Delayed ability to sit
CUI: C4476710
Disease: Delayed ability to sit
1 0.658 0.240 1 11128107 missense variant G/A;T snv 0.700 1.000 1 2016 2016
Delayed ability to stand
CUI: C4476709
Disease: Delayed ability to stand
1 0.658 0.240 1 11128107 missense variant G/A;T snv 0.700 1.000 1 2016 2016
Delayed fine motor development
CUI: C4023681
Disease: Delayed fine motor development
13 0.658 0.240 1 11128107 missense variant G/A;T snv 0.700 1.000 1 2016 2016
Delayed speech and language development
CUI: C0454644
Disease: Delayed speech and language development
192 0.658 0.240 1 11128107 missense variant G/A;T snv 0.700 1.000 1 2016 2016
Depressed nasal bridge
CUI: C1836542
Disease: Depressed nasal bridge
39 0.658 0.240 1 11128107 missense variant G/A;T snv 0.700 1.000 1 2016 2016
Dilated ventricles (finding)
CUI: C3278923
Disease: Dilated ventricles (finding)
32 0.658 0.240 1 11128107 missense variant G/A;T snv 0.700 1.000 1 2016 2016
Dysgenesis of corpus callosum
CUI: C0431369
Disease: Dysgenesis of corpus callosum
3 0.658 0.240 1 11128107 missense variant G/A;T snv 0.700 1.000 1 2016 2016
Extra-axial cerebrospinal fluid accumulation
CUI: C4022871
Disease: Extra-axial cerebrospinal fluid accumulation
1 0.658 0.240 1 11128107 missense variant G/A;T snv 0.700 1.000 1 2016 2016
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.658 0.240 1 11128107 missense variant G/A;T snv 0.700 1.000 1 2016 2016
Gestational Diabetes
CUI: C0085207
Disease: Gestational Diabetes
224 0.658 0.240 1 11128107 missense variant G/A;T snv 0.700 1.000 1 2016 2016
Gross motor development delay
CUI: C1837658
Disease: Gross motor development delay
59 0.658 0.240 1 11128107 missense variant G/A;T snv 0.700 1.000 1 2016 2016
Hyperpigmentation
CUI: C0162834
Disease: Hyperpigmentation
11 0.658 0.240 1 11128107 missense variant G/A;T snv 0.700 1.000 1 2016 2016
Hyperpigmented streaks
CUI: C1866245
Disease: Hyperpigmented streaks
1 0.658 0.240 1 11128107 missense variant G/A;T snv 0.700 1.000 1 2016 2016
Hypoplasia of corpus callosum
CUI: C0344482
Disease: Hypoplasia of corpus callosum
49 0.658 0.240 1 11128107 missense variant G/A;T snv 0.700 1.000 1 2016 2016
Irregular hyperpigmentation
CUI: C1860236
Disease: Irregular hyperpigmentation
2 0.658 0.240 1 11128107 missense variant G/A;T snv 0.700 1.000 1 2016 2016
Irregular hyperpigmentation of back
CUI: C4024854
Disease: Irregular hyperpigmentation of back
1 0.658 0.240 1 11128107 missense variant G/A;T snv 0.700 1.000 1 2016 2016
Large head (disorder)
CUI: C2243051
Disease: Large head (disorder)
116 0.658 0.240 1 11128107 missense variant G/A;T snv 0.700 1.000 1 2016 2016
Linear hyperpigmentation
CUI: C3278658
Disease: Linear hyperpigmentation
2 0.658 0.240 1 11128107 missense variant G/A;T snv 0.700 1.000 1 2016 2016