Source: UNIPROT

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: rs113994095
rs113994095
0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder)
0.840 1.000 7 2001 2016
dbSNP: rs113994097
rs113994097
0.724 0.400 15 89323426 missense variant C/G snv 9.7E-04 7.9E-04
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder)
0.830 1.000 7 2004 2014
dbSNP: rs113994095
rs113994095
0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
0.810 1.000 10 2003 2016
dbSNP: rs113994094
rs113994094
0.827 0.080 15 89330184 missense variant G/A snv 1.5E-03 1.6E-03
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
0.800 1.000 14 2001 2006
dbSNP: rs113994095
rs113994095
0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
0.800 1.000 14 2001 2013
dbSNP: rs113994096
rs113994096
0.827 0.080 15 89325639 missense variant G/A snv 1.5E-03 1.6E-03
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
0.800 1.000 14 2001 2006
dbSNP: rs113994098
rs113994098
0.742 0.320 15 89321792 missense variant C/T snv 1.5E-04 2.7E-04
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
0.800 1.000 14 2001 2006
dbSNP: rs121918044
rs121918044
0.807 0.240 15 89329055 missense variant A/C snv 5.7E-05 3.5E-05
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
0.800 1.000 14 2001 2006
dbSNP: rs121918045
rs121918045
1.000 15 89333747 missense variant C/G snv
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
0.800 1.000 14 2001 2006
dbSNP: rs121918054
rs121918054
0.807 0.240 15 89323460 missense variant C/G;T snv 6.9E-04; 4.0E-06
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
0.800 1.000 14 2001 2006
dbSNP: rs201732356
rs201732356
0.807 0.240 15 89318737 missense variant G/A;C snv 8.0E-06
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
0.800 1.000 14 2001 2006
dbSNP: rs113994097
rs113994097
0.724 0.400 15 89323426 missense variant C/G snv 9.7E-04 7.9E-04
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
0.800 1.000 10 2003 2016
dbSNP: rs121918046
rs121918046
0.925 0.160 15 89325520 missense variant G/A snv 1.4E-05
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
0.800 1.000 9 2003 2006
dbSNP: rs121918048
rs121918048
0.882 0.200 15 89320953 missense variant G/A snv
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
0.800 1.000 9 2003 2006
dbSNP: rs121918049
rs121918049
0.925 0.200 15 89319053 missense variant C/A;G;T snv 3.2E-05; 2.0E-05; 4.0E-06
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
0.800 1.000 9 2003 2006
dbSNP: rs113994094
rs113994094
0.827 0.080 15 89330184 missense variant G/A snv 1.5E-03 1.6E-03
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder)
0.800 1.000 7 2002 2014
dbSNP: rs113994096
rs113994096
0.827 0.080 15 89325639 missense variant G/A snv 1.5E-03 1.6E-03
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder)
0.800 1.000 7 2003 2014
dbSNP: rs113994098
rs113994098
0.742 0.320 15 89321792 missense variant C/T snv 1.5E-04 2.7E-04
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder)
0.800 1.000 7 2002 2014
dbSNP: rs113994099
rs113994099
0.827 0.240 15 89320883 missense variant T/C snv
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1
0.800 1.000 7 2002 2008
dbSNP: rs121918051
rs121918051
1.000 0.160 15 89320878 missense variant C/A;G snv 4.0E-06
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1
0.800 1.000 7 2002 2008
dbSNP: rs121918055
rs121918055
0.925 0.200 15 89326965 missense variant C/T snv
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1
0.800 1.000 7 2002 2008
dbSNP: rs139590686
rs139590686
0.925 0.080 15 89321007 missense variant T/C;G snv 1.1E-04
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder)
0.800 1.000 7 2004 2017
dbSNP: rs201732356
rs201732356
0.807 0.240 15 89318737 missense variant G/A;C snv 8.0E-06
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder)
0.800 1.000 7 2003 2014
dbSNP: rs368435864
rs368435864
1.000 0.080 15 89318736 missense variant C/A;T snv 1.2E-05; 2.0E-05
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder)
0.800 1.000 7 2004 2014
dbSNP: rs121918163
rs121918163
1.000 0.120 15 89315319 missense variant G/A snv
FANCONI ANEMIA, COMPLEMENTATION GROUP I
0.800 1.000 3 2007 2007