rs139590686
|
|
0.925 |
0.080 |
15 |
89321007 |
missense variant
|
T/C;G
|
snv
|
1.1E-04
|
|
Alpers Syndrome (disorder)
|
0.800 |
1.000 |
20 |
2004 |
2017 |
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 |
rs121918048
|
|
0.882 |
0.200 |
15 |
89320953 |
missense variant
|
G/A
|
snv
|
|
|
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
|
0.700 |
1.000 |
14 |
2001 |
2006 |
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 |
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 |
rs556925652
|
|
1.000 |
|
15 |
89325664 |
missense variant
|
G/A
|
snv
|
2.0E-05
|
|
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
|
0.700 |
1.000 |
14 |
2001 |
2006 |
rs753410045
|
|
1.000 |
|
15 |
89318710 |
missense variant
|
C/G;T
|
snv
|
2.0E-05
|
|
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
|
0.700 |
1.000 |
14 |
2001 |
2006 |
rs781168350
|
|
1.000 |
|
15 |
89326639 |
missense variant
|
C/T
|
snv
|
4.0E-06
|
|
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
|
0.700 |
1.000 |
14 |
2001 |
2006 |
rs121918052
|
|
1.000 |
0.160 |
15 |
89327006 |
missense variant
|
C/G;T
|
snv
|
1.3E-04;
8.0E-06
|
|
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
|
0.700 |
1.000 |
10 |
2003 |
2016 |
rs138929605
|
|
0.882 |
0.080 |
15 |
89330106 |
missense variant
|
T/A;C;G
|
snv
|
3.8E-04;
2.0E-05
|
|
Depletion of mitochondrial DNA
|
0.700 |
1.000 |
10 |
2008 |
2017 |
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 |
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 |
rs121918054
|
|
0.807 |
0.240 |
15 |
89323460 |
missense variant
|
C/G;T
|
snv
|
6.9E-04;
4.0E-06
|
|
Seizures
|
0.700 |
1.000 |
9 |
2006 |
2015 |
rs201732356
|
|
0.807 |
0.240 |
15 |
89318737 |
missense variant
|
G/A;C
|
snv
|
8.0E-06
|
|
Alpers Syndrome (disorder)
|
0.800 |
1.000 |
9 |
2003 |
2014 |
rs368435864
|
|
1.000 |
0.080 |
15 |
89318736 |
missense variant
|
C/A;T
|
snv
|
1.2E-05;
2.0E-05
|
|
Seizures
|
0.700 |
1.000 |
9 |
2006 |
2013 |
rs61752783
|
|
0.882 |
0.200 |
15 |
89326947 |
missense variant
|
C/A;G
|
snv
|
4.8E-03;
2.0E-05
|
|
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
|
0.700 |
1.000 |
9 |
2003 |
2006 |
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 |
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 |
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 |
rs138929605
|
|
0.882 |
0.080 |
15 |
89330106 |
missense variant
|
T/A;C;G
|
snv
|
3.8E-04;
2.0E-05
|
|
Alpers Syndrome (disorder)
|
0.700 |
1.000 |
7 |
2008 |
2015 |
rs368435864
|
|
1.000 |
0.080 |
15 |
89318736 |
missense variant
|
C/A;T
|
snv
|
1.2E-05;
2.0E-05
|
|
Alpers Syndrome (disorder)
|
0.800 |
1.000 |
7 |
2004 |
2014 |
rs776031396
|
|
1.000 |
0.160 |
15 |
89317492 |
stop gained
|
G/A;T
|
snv
|
8.0E-06
|
|
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1
|
0.700 |
1.000 |
7 |
2002 |
2008 |
rs121918054
|
|
0.807 |
0.240 |
15 |
89323460 |
missense variant
|
C/G;T
|
snv
|
6.9E-04;
4.0E-06
|
|
Alpers Syndrome (disorder)
|
0.700 |
1.000 |
6 |
2006 |
2014 |
rs142347031
|
|
1.000 |
0.080 |
15 |
89320850 |
stop lost
|
A/C
|
snv
|
1.2E-05
|
|
Alpers Syndrome (disorder)
|
0.700 |
1.000 |
5 |
2006 |
2013 |
rs796052887
|
|
1.000 |
0.080 |
15 |
89322748 |
missense variant
|
C/G;T
|
snv
|
|
|
Alpers Syndrome (disorder)
|
0.700 |
1.000 |
5 |
2003 |
2017 |