PIGL, phosphatidylinositol glycan anchor biosynthesis class L, 9487
N. diseases: 152; N. variants: 11
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 | 0.360 | 17 | 16234009 | frameshift variant | C/- | del | 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms; Cardiovascular Diseases | 0.700 | 0 | ||||||||||
|
17 | 16268374 | intron variant | TT/- | delins | 0.40 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
17 | 16268374 | intron variant | TT/- | delins | 0.40 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
17 | 16268374 | intron variant | TT/- | delins | 0.40 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1.000 | 0.360 | 17 | 16316686 | missense variant | T/C | snv | 4.1E-04 | 6.1E-04 |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms; Cardiovascular Diseases | 0.810 | 1.000 | 2 | 2012 | 2019 | ||||||
|
1.000 | 0.080 | 17 | 16342702 | 3 prime UTR variant | A/C | snv | 0.38 |
|
Nutritional and Metabolic Diseases; Nervous System Diseases | 0.810 | 1.000 | 2 | 2013 | 2014 | |||||||
|
17 | 16252921 | intron variant | A/G | snv | 0.41 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
17 | 16265470 | intron variant | C/T | snv | 0.42 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
17 | 16265470 | intron variant | C/T | snv | 0.42 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
17 | 16265470 | intron variant | C/T | snv | 0.42 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
17 | 16232975 | intron variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
17 | 16271711 | intron variant | T/C | snv | 0.41 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
17 | 16283501 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
1.000 | 0.360 | 17 | 16317900 | stop gained | C/A;G;T | snv | 4.0E-06; 8.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms; Cardiovascular Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.360 | 17 | 16313546 | splice acceptor variant | G/A | snv | 8.0E-06 | 3.5E-05 |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms; Cardiovascular Diseases | 0.700 | 0 |