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.
Alpers Syndrome (disorder)
CUI: C0205710
Disease: Alpers Syndrome (disorder)
128 0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04 0.840 1.000 17 2001 2016
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
CUI: C1843851
Disease: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
15 0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04 0.810 1.000 11 2003 2016
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
CUI: C4225153
Disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
27 0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04 0.800 1.000 28 2001 2013
Liver Failure, Acute
CUI: C0162557
Disease: Liver Failure, Acute
21 0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04 0.710 1.000 41 2001 2018
Seizures
CUI: C0036572
Disease: Seizures
553 0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04 0.700 1.000 44 2001 2018
Ataxia, Sensory
CUI: C0240991
Disease: Ataxia, Sensory
1 0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04 0.700 1.000 41 2001 2018
Bipolar Disorder
CUI: C0005586
Disease: Bipolar Disorder
839 0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04 0.700 1.000 41 2001 2018
Decreased tendon reflex
CUI: C0700078
Disease: Decreased tendon reflex
13 0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04 0.700 1.000 41 2001 2018
Decreased vibratory sense
CUI: C1295585
Disease: Decreased vibratory sense
8 0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04 0.700 1.000 41 2001 2018
Electroencephalogram abnormal
CUI: C0151611
Disease: Electroencephalogram abnormal
27 0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04 0.700 1.000 41 2001 2018
Impaired proprioception
CUI: C1856691
Disease: Impaired proprioception
3 0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04 0.700 1.000 41 2001 2018
Kinetic tremor
CUI: C4551521
Disease: Kinetic tremor
5 0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04 0.700 1.000 41 2001 2018
Limb dysmetria
CUI: C1854489
Disease: Limb dysmetria
6 0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04 0.700 1.000 41 2001 2018
Myoclonus
CUI: C0027066
Disease: Myoclonus
34 0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04 0.700 1.000 41 2001 2018
Polyneuropathy
CUI: C0152025
Disease: Polyneuropathy
32 0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04 0.700 1.000 41 2001 2018
Static Tremor
CUI: C0234378
Disease: Static Tremor
3 0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04 0.700 1.000 41 2001 2018
Mitochondrial Diseases
CUI: C0751651
Disease: Mitochondrial Diseases
84 0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04 0.700 1.000 1 2017 2017
Mitochondrial DNA Depletion Syndrome 1
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
78 0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04 0.700 0
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)
CUI: C3150914
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)
17 0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04 0.700 0
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1
CUI: C1834846
Disease: Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1
13 0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04 0.700 0
SPINOCEREBELLAR ATAXIA WITH EPILEPSY
CUI: C1843852
Disease: SPINOCEREBELLAR ATAXIA WITH EPILEPSY
2 0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04 0.700 0
Ataxia
CUI: C0004134
Disease: Ataxia
68 0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04 0.010 1.000 1 2007 2007
Blepharoptosis
CUI: C0005745
Disease: Blepharoptosis
57 0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04 0.010 1.000 1 2008 2008
Cardiac Arrest
CUI: C0018790
Disease: Cardiac Arrest
50 0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04 0.010 1.000 1 2007 2007
Cerebellar Ataxia
CUI: C0007758
Disease: Cerebellar Ataxia
120 0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04 0.010 1.000 1 2007 2007