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 |
rs121918053
|
|
1.000 |
|
15 |
89321777 |
missense variant
|
G/A
|
snv
|
1.2E-05
|
2.8E-05
|
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
|
0.700 |
1.000 |
14 |
2001 |
2006 |
rs2307440
|
|
1.000 |
|
15 |
89318587 |
missense variant
|
G/A
|
snv
|
1.9E-04
|
1.5E-04
|
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
|
0.700 |
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 |
rs61752784
|
|
1.000 |
|
15 |
89330133 |
missense variant
|
C/G
|
snv
|
3.4E-03
|
3.6E-03
|
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 |
rs763393580
|
|
1.000 |
|
15 |
89321194 |
missense variant
|
C/T
|
snv
|
4.0E-05
|
2.1E-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 |
rs121918050
|
|
1.000 |
|
15 |
89321743 |
missense variant
|
T/C
|
snv
|
4.0E-06
|
7.0E-06
|
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)
|
0.800 |
1.000 |
2 |
2003 |
2009 |
rs1054875
|
|
|
|
15 |
89335895 |
non coding transcript exon variant
|
A/G;T
|
snv
|
|
|
Age at menopause
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs2238300
|
|
|
|
15 |
89308349 |
intron variant
|
G/A
|
snv
|
|
0.37
|
Body Height
|
0.700 |
1.000 |
1 |
2014 |
2014 |
rs2307449
|
|
|
|
15 |
89320697 |
intron variant
|
T/G
|
snv
|
|
0.47
|
Age at menopause
|
0.800 |
1.000 |
1 |
2012 |
2012 |
rs1010372555
|
|
1.000 |
|
15 |
89318712 |
missense variant
|
G/A;C
|
snv
|
4.0E-06;
4.0E-06
|
|
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
|
0.700 |
|
0 |
|
|
rs1057517891
|
|
|
|
15 |
89333346 |
stop gained
|
G/A
|
snv
|
|
|
Seizures
|
0.700 |
|
0 |
|
|
rs745539599
|
|
1.000 |
|
15 |
89329042 |
missense variant
|
C/A
|
snv
|
4.0E-06
|
7.0E-06
|
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
|
0.700 |
|
0 |
|
|
rs768028281
|
|
1.000 |
|
15 |
89319064 |
missense variant
|
C/T
|
snv
|
8.0E-06
|
7.0E-06
|
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
|
0.700 |
|
0 |
|
|
rs774474723
|
|
1.000 |
|
15 |
89325679 |
missense variant
|
G/A;C
|
snv
|
4.1E-06
|
|
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
|
0.700 |
|
0 |
|
|
rs886041276
|
|
|
|
15 |
89319275 |
frameshift variant
|
CCTCAGTCCTGTCCACTGGGAGGTTCAACTCCCTCACCAGCCAC/-
|
delins
|
|
|
Seizures
|
0.700 |
|
0 |
|
|
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 |
rs1131691575
|
|
0.925 |
0.080 |
15 |
89317469 |
missense variant
|
C/T
|
snv
|
8.0E-06
|
1.4E-05
|
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
|
0.700 |
1.000 |
14 |
2001 |
2006 |
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 |
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 |
rs121918056
|
|
0.882 |
0.080 |
15 |
89330257 |
missense variant
|
G/A
|
snv
|
4.0E-06
|
7.0E-06
|
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
|
0.700 |
1.000 |
14 |
2001 |
2006 |
rs145843073
|
|
0.882 |
0.080 |
15 |
89327198 |
missense variant
|
T/C
|
snv
|
4.7E-04
|
6.3E-04
|
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
|
0.700 |
1.000 |
14 |
2001 |
2006 |
rs113994094
|
|
0.827 |
0.080 |
15 |
89330184 |
missense variant
|
G/A
|
snv
|
1.5E-03
|
1.6E-03
|
Alpers Syndrome (disorder)
|
0.800 |
1.000 |
12 |
2002 |
2014 |