EPM2A, EPM2A glucan phosphatase, laforin, 7957
N. diseases: 87; N. variants: 20
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.080 | 6 | 145627577 | missense variant | C/A;T | snv | 8.0E-06; 1.2E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.810 | 1.000 | 15 | 1998 | 2015 | |||||||
|
1.000 | 0.080 | 6 | 145735405 | missense variant | A/C;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.800 | 1.000 | 14 | 1998 | 2015 | ||||||||
|
1.000 | 0.080 | 6 | 145686276 | missense variant | G/A | snv | 2.4E-05 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.800 | 1.000 | 14 | 1998 | 2015 | ||||||
|
0.925 | 0.080 | 6 | 145627691 | stop gained | G/A;C | snv | 7.7E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.720 | 1.000 | 3 | 2000 | 2014 | |||||||
|
1.000 | 0.080 | 6 | 145735235 | missense variant | G/A;T | snv | 6.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 14 | 1998 | 2015 | |||||||
|
1.000 | 0.080 | 6 | 145735247 | missense variant | G/A;C | snv | 6.2E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 14 | 1998 | 2015 | |||||||
|
1.000 | 0.080 | 6 | 145635451 | missense variant | C/T | snv | 2.0E-05 | 1.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 14 | 1998 | 2015 | ||||||
|
1.000 | 0.080 | 6 | 145635382 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 14 | 1998 | 2015 | ||||||||
|
1.000 | 0.080 | 6 | 145686262 | stop gained | -/T | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 6 | 145627458 | frameshift variant | -/A | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 6 | 145627534 | missense variant | T/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 6 | 145627510 | missense variant | G/A | snv | 8.0E-06 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.080 | 6 | 145627618 | missense variant | T/C | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 |