POLG, DNA polymerase gamma, catalytic subunit, 5428
N. diseases: 462; N. variants: 173
Source: ALL
Variant | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Disease Class | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.701 | 0.360 | 15 | 89327201 | missense variant | C/T | snv | 5.1E-04 | 6.7E-04 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 44 | 2001 | 2018 | ||||||
|
0.807 | 0.240 | 15 | 89323460 | missense variant | C/G;T | snv | 6.9E-04; 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 9 | 2006 | 2015 | |||||||
|
1.000 | 0.080 | 15 | 89318736 | missense variant | C/A;T | snv | 1.2E-05; 2.0E-05 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 9 | 2006 | 2013 | |||||||
|
0.827 | 0.080 | 15 | 89325639 | missense variant | G/A | snv | 1.5E-03 | 1.6E-03 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 7 | 2003 | 2013 | ||||||
|
0.724 | 0.400 | 15 | 89323426 | missense variant | C/G | snv | 9.7E-04 | 7.9E-04 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 6 | 2007 | 2019 | ||||||
|
0.851 | 0.120 | 15 | 89320857 | missense variant | G/A | snv | 6.8E-04 | 3.4E-04 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 4 | 2007 | 2013 | ||||||
|
0.827 | 0.080 | 15 | 89330184 | missense variant | G/A | snv | 1.5E-03 | 1.6E-03 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 3 | 2011 | 2015 | ||||||
|
0.742 | 0.320 | 15 | 89321792 | missense variant | C/T | snv | 1.5E-04 | 2.7E-04 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 2 | 2002 | 2011 | ||||||
|
1.000 | 0.080 | 15 | 89319225 | splice region variant | T/A;C | snv | 4.0E-05 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 2 | 2011 | 2013 | |||||||
|
15 | 89333346 | stop gained | G/A | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 0 | |||||||||||||
|
15 | 89319275 | frameshift variant | CCTCAGTCCTGTCCACTGGGAGGTTCAACTCCCTCACCAGCCAC/- | delins |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 0 |