rs113994096, POLG

N. diseases: 8
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.
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
27 0.827 0.080 15 89325639 missense variant G/A snv 1.5E-03 1.6E-03 0.800 1.000 14 2001 2006
Alpers Syndrome (disorder)
CUI: C0205710
Disease: Alpers Syndrome (disorder)
128 0.827 0.080 15 89325639 missense variant G/A snv 1.5E-03 1.6E-03 0.800 1.000 12 2003 2014
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)
17 0.827 0.080 15 89325639 missense variant G/A snv 1.5E-03 1.6E-03 0.800 1.000 2 2003 2009
Seizures
CUI: C0036572
Disease: Seizures
553 0.827 0.080 15 89325639 missense variant G/A snv 1.5E-03 1.6E-03 0.700 1.000 7 2003 2013
Mitochondrial Diseases
CUI: C0751651
Disease: Mitochondrial Diseases
84 0.827 0.080 15 89325639 missense variant G/A snv 1.5E-03 1.6E-03 0.700 1.000 1 2017 2017
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.827 0.080 15 89325639 missense variant G/A snv 1.5E-03 1.6E-03 0.700 0
Mitochondrial DNA Depletion Syndrome 1
78 0.827 0.080 15 89325639 missense variant G/A snv 1.5E-03 1.6E-03 0.700 0
Leukoencephalopathy
CUI: C0270612
Disease: Leukoencephalopathy
17 0.827 0.080 15 89325639 missense variant G/A snv 1.5E-03 1.6E-03 0.010 1.000 1 2003 2003