rs113994094, POLG

N. diseases: 6
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
CUI: C4225153
Disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
27 0.827 0.080 15 89330184 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 89330184 missense variant G/A snv 1.5E-03 1.6E-03 0.800 1.000 12 2002 2014
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)
CUI: C3150914
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)
17 0.827 0.080 15 89330184 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 89330184 missense variant G/A snv 1.5E-03 1.6E-03 0.700 1.000 3 2011 2015
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.827 0.080 15 89330184 missense variant G/A snv 1.5E-03 1.6E-03 0.700 0
Mitochondrial DNA Depletion Syndrome 1
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
78 0.827 0.080 15 89330184 missense variant G/A snv 1.5E-03 1.6E-03 0.700 0