PIK3CD, phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta, 5293
N. diseases: 1119; N. variants: 24
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.790 | 0.240 | 1 | 9726972 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases | 0.820 | 1.000 | 8 | 2006 | 2018 | ||||||||
|
1.000 | 0.080 | 1 | 9729092 | 3 prime UTR variant | C/T | snv | 2.2E-02 |
|
Respiratory Tract Diseases; Immune System Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1.000 | 0.120 | 1 | 9653328 | non coding transcript exon variant | C/T | snv | 0.53 |
|
Neoplasms; Male Urogenital Diseases; Endocrine System Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 9653442 | non coding transcript exon variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
1 | 9651584 | upstream gene variant | A/G | snv | 0.52 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1 | 9651584 | upstream gene variant | A/G | snv | 0.52 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1 | 9651616 | upstream gene variant | A/G | snv | 0.52 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.080 | 1 | 9717608 | missense variant | C/A;G;T | snv | 1.4E-03 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases | 0.700 | 0 | ||||||||||
|
0.790 | 0.240 | 1 | 9726972 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.790 | 0.240 | 1 | 9726972 | missense variant | G/A | snv |
|
Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||
|
0.790 | 0.240 | 1 | 9726972 | missense variant | G/A | snv |
|
Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||
|
0.790 | 0.240 | 1 | 9726972 | missense variant | G/A | snv |
|
Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 1 | 9720793 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 1 | 9719924 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 1 | 9715706 | missense variant | G/A | snv | 8.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 9720852 | frameshift variant | GGCGCTAGCCCGGC/- | del | 4.1E-06 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.120 | 1 | 9722244 | splice region variant | C/T | snv | 5.8E-04 | 2.5E-03 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1.000 | 0.120 | 1 | 9722067 | synonymous variant | C/T | snv | 4.4E-05 | 5.6E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
0.790 | 0.240 | 1 | 9726972 | missense variant | G/A | snv |
|
Neoplasms; Infections; Immune System Diseases; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.790 | 0.240 | 1 | 9726972 | missense variant | G/A | snv |
|
Neoplasms; Infections; Immune System Diseases; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.790 | 0.240 | 1 | 9726972 | missense variant | G/A | snv |
|
Otorhinolaryngologic Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.790 | 0.240 | 1 | 9726972 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.790 | 0.240 | 1 | 9726972 | missense variant | G/A | snv |
|
Neoplasms; Infections; Immune System Diseases; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.200 | 1 | 9720653 | missense variant | G/A | snv | 6.3E-05 | 1.2E-04 |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1.000 | 0.120 | 1 | 9718800 | missense variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 |