Source: CLINVAR

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: rs267606959
rs267606959
POLG
0.732 0.200 15 89318986 missense variant G/A snv 2.0E-05
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		0.710 1.000 4 2010 2015
dbSNP: rs267606959
rs267606959
POLG
0.732 0.200 15 89318986 missense variant G/A snv 2.0E-05
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		0.700 1.000 2 2010 2011
dbSNP: rs267606959
rs267606959
POLG
0.732 0.200 15 89318986 missense variant G/A snv 2.0E-05
CUI: C0038220
Disease: Status Epilepticus
Status Epilepticus 		0.700 1.000 2 2010 2011
dbSNP: rs267606959
rs267606959
POLG
0.732 0.200 15 89318986 missense variant G/A snv 2.0E-05
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		0.700 1.000 2 2010 2011
dbSNP: rs267606959
rs267606959
POLG
0.732 0.200 15 89318986 missense variant G/A snv 2.0E-05
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis 		0.700 1.000 2 2010 2011
dbSNP: rs267606959
rs267606959
POLG
0.732 0.200 15 89318986 missense variant G/A snv 2.0E-05
CUI: C1846288
Disease: Recurrent hypoglycemia
Recurrent hypoglycemia 		0.700 1.000 2 2010 2011
dbSNP: rs267606959
rs267606959
POLG
0.732 0.200 15 89318986 missense variant G/A snv 2.0E-05
CUI: C0234985
Disease: Mental deterioration
Mental deterioration 		0.700 1.000 2 2010 2011
dbSNP: rs267606959
rs267606959
POLG
0.732 0.200 15 89318986 missense variant G/A snv 2.0E-05
CUI: C0349588
Disease: Short stature
Short stature 		0.700 1.000 2 2010 2011
dbSNP: rs267606959
rs267606959
POLG
0.732 0.200 15 89318986 missense variant G/A snv 2.0E-05
CUI: C0240997
Disease: Decreased serum ceruloplasmin
Decreased serum ceruloplasmin 		0.700 1.000 2 2010 2011
dbSNP: rs267606959
rs267606959
POLG
0.732 0.200 15 89318986 missense variant G/A snv 2.0E-05
CUI: C0268070
Disease: Hypocupremia
Hypocupremia 		0.700 1.000 2 2010 2011
dbSNP: rs267606959
rs267606959
POLG
0.732 0.200 15 89318986 missense variant G/A snv 2.0E-05
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		0.700 1.000 2 2010 2011
dbSNP: rs267606959
rs267606959
POLG
0.732 0.200 15 89318986 missense variant G/A snv 2.0E-05
CUI: C4551584
Disease: Brain atrophy
Brain atrophy 		0.700 1.000 2 2010 2011
dbSNP: rs267606959
rs267606959
POLG
0.732 0.200 15 89318986 missense variant G/A snv 2.0E-05
CUI: C4025751
Disease: Abnormality of the pancreas
Abnormality of the pancreas 		0.700 1.000 2 2010 2011
dbSNP: rs267606959
rs267606959
POLG
0.732 0.200 15 89318986 missense variant G/A snv 2.0E-05
CUI: C4073164
Disease: Decreased urinary copper concentration
Decreased urinary copper concentration 		0.700 1.000 2 2010 2011
dbSNP: rs267606959
rs267606959
POLG
0.732 0.200 15 89318986 missense variant G/A snv 2.0E-05
CUI: C3150914
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) 		0.700 0