rs267606959, POLG

N. diseases: 19
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 0.732 0.200 15 89318986 missense variant G/A snv 2.0E-05 0.710 1.000 4 2010 2015
Abnormal behavior
CUI: C0233514
Disease: Abnormal behavior
121 0.732 0.200 15 89318986 missense variant G/A snv 2.0E-05 0.700 1.000 2 2010 2011
Abnormality of the pancreas
CUI: C4025751
Disease: Abnormality of the pancreas
1 0.732 0.200 15 89318986 missense variant G/A snv 2.0E-05 0.700 1.000 2 2010 2011
Brain atrophy
CUI: C4551584
Disease: Brain atrophy
46 0.732 0.200 15 89318986 missense variant G/A snv 2.0E-05 0.700 1.000 2 2010 2011
Decreased serum ceruloplasmin
CUI: C0240997
Disease: Decreased serum ceruloplasmin
5 0.732 0.200 15 89318986 missense variant G/A snv 2.0E-05 0.700 1.000 2 2010 2011
Decreased urinary copper concentration
CUI: C4073164
Disease: Decreased urinary copper concentration
1 0.732 0.200 15 89318986 missense variant G/A snv 2.0E-05 0.700 1.000 2 2010 2011
Fibrosis, Liver
CUI: C0239946
Disease: Fibrosis, Liver
64 0.732 0.200 15 89318986 missense variant G/A snv 2.0E-05 0.700 1.000 2 2010 2011
Hypocupremia
CUI: C0268070
Disease: Hypocupremia
2 0.732 0.200 15 89318986 missense variant G/A snv 2.0E-05 0.700 1.000 2 2010 2011
Mental deterioration
CUI: C0234985
Disease: Mental deterioration
121 0.732 0.200 15 89318986 missense variant G/A snv 2.0E-05 0.700 1.000 2 2010 2011
Recurrent hypoglycemia
CUI: C1846288
Disease: Recurrent hypoglycemia
1 0.732 0.200 15 89318986 missense variant G/A snv 2.0E-05 0.700 1.000 2 2010 2011
Short stature
CUI: C0349588
Disease: Short stature
292 0.732 0.200 15 89318986 missense variant G/A snv 2.0E-05 0.700 1.000 2 2010 2011
Skeletal muscle atrophy
CUI: C0541794
Disease: Skeletal muscle atrophy
12 0.732 0.200 15 89318986 missense variant G/A snv 2.0E-05 0.700 1.000 2 2010 2011
Status Epilepticus
CUI: C0038220
Disease: Status Epilepticus
12 0.732 0.200 15 89318986 missense variant G/A snv 2.0E-05 0.700 1.000 2 2010 2011
Steatohepatitis
CUI: C2711227
Disease: Steatohepatitis
75 0.732 0.200 15 89318986 missense variant G/A snv 2.0E-05 0.700 1.000 2 2010 2011
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)
CUI: C3150914
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)
17 0.732 0.200 15 89318986 missense variant G/A snv 2.0E-05 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.732 0.200 15 89318986 missense variant G/A snv 2.0E-05 0.010 1.000 1 2010 2010
Hepatic Encephalopathy
CUI: C0019151
Disease: Hepatic Encephalopathy
3 0.732 0.200 15 89318986 missense variant G/A snv 2.0E-05 0.010 1.000 1 2010 2010
Liver Failure
CUI: C0085605
Disease: Liver Failure
20 0.732 0.200 15 89318986 missense variant G/A snv 2.0E-05 0.010 1.000 1 2010 2010
POLG mutation
CUI: C3888962
Disease: POLG mutation
7 0.732 0.200 15 89318986 missense variant G/A snv 2.0E-05 0.010 1.000 1 2010 2010