Source: BEFREE ×
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)
3 0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04 0.840 1.000 4 2001 2016
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
CUI: C1843851
Disease: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
1 0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04 0.810 1.000 1 2003 2016
Liver Failure, Acute
CUI: C0162557
Disease: Liver Failure, Acute
14 0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04 0.710 1.000 1 2001 2018
Ataxia
CUI: C0004134
Disease: Ataxia
52 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
8 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
47 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
64 0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04 0.010 1.000 1 2007 2007
Encephalopathies
CUI: C0085584
Disease: Encephalopathies
64 0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04 0.010 1.000 1 2011 2011
Epilepsy
CUI: C0014544
Disease: Epilepsy
250 0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04 0.010 1.000 1 2011 2011
Mitochondrial abnormalities
CUI: C4020732
Disease: Mitochondrial abnormalities
20 0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04 0.010 1.000 1 2014 2014
Ophthalmoparesis
CUI: C0751401
Disease: Ophthalmoparesis
2 0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04 0.010 1.000 1 2010 2010
POLG mutation
CUI: C3888962
Disease: POLG mutation
7 0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04 0.010 1.000 1 2010 2010
Ptosis
CUI: C0033377
Disease: Ptosis
12 0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04 0.010 1.000 1 2008 2008