TSPEAR, thrombospondin type laminin G domain and EAR repeats, 54084
N. diseases: 29; N. variants: 9
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 | 21 | 44516312 | non coding transcript exon variant | C/A;T | snv |
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.851 | 0.240 | 21 | 44509225 | frameshift variant | GAC/AA | delins |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.851 | 0.240 | 21 | 44509225 | frameshift variant | GAC/AA | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.851 | 0.240 | 21 | 44509225 | frameshift variant | GAC/AA | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.851 | 0.240 | 21 | 44509225 | frameshift variant | GAC/AA | delins |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.851 | 0.240 | 21 | 44509225 | frameshift variant | GAC/AA | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.851 | 0.240 | 21 | 44509225 | frameshift variant | GAC/AA | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.851 | 0.240 | 21 | 44509225 | frameshift variant | GAC/AA | delins |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.851 | 0.240 | 21 | 44509225 | frameshift variant | GAC/AA | delins |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.851 | 0.240 | 21 | 44509225 | frameshift variant | GAC/AA | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.851 | 0.240 | 21 | 44509225 | frameshift variant | GAC/AA | delins |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.851 | 0.240 | 21 | 44509225 | frameshift variant | GAC/AA | delins |
|
Behavior and Behavior Mechanisms | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.851 | 0.240 | 21 | 44509225 | frameshift variant | GAC/AA | delins |
|
Nervous System Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.851 | 0.240 | 21 | 44509225 | frameshift variant | GAC/AA | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.851 | 0.240 | 21 | 44509225 | frameshift variant | GAC/AA | delins |
|
Mental Disorders | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 21 | 44533770 | frameshift variant | CCAG/- | del |
|
0.700 | 0 | |||||||||||||
|
1.000 | 0.080 | 21 | 44612576 | missense variant | C/A;T | snv | 4.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 21 | 44509227 | missense variant | C/A;T | snv | 3.2E-05; 1.2E-05; 1.2E-05 | 1.4E-05 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 21 | 44509225 | frameshift variant | G/- | del | 3.2E-05 | 1.4E-05 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 21 | 44533731 | missense variant | C/T | snv | 2.5E-05 | 2.8E-05 |
|
Digestive System Diseases; Neoplasms | 0.700 | 0 | |||||||||
|
0.851 | 0.240 | 21 | 44531087 | stop gained | G/A | snv | 3.2E-04 | 2.7E-04 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
0.851 | 0.240 | 21 | 44531087 | stop gained | G/A | snv | 3.2E-04 | 2.7E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
0.851 | 0.240 | 21 | 44531087 | stop gained | G/A | snv | 3.2E-04 | 2.7E-04 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.851 | 0.240 | 21 | 44531087 | stop gained | G/A | snv | 3.2E-04 | 2.7E-04 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
0.851 | 0.240 | 21 | 44531087 | stop gained | G/A | snv | 3.2E-04 | 2.7E-04 |
|
Nervous System Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 |