ADAMTS2, ADAM metallopeptidase with thrombospondin type 1 motif 2, 9509
N. diseases: 138; N. variants: 13
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 | 0.160 | 5 | 179272926 | stop gained | G/A | snv | 1.5E-04 | 5.6E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 6 | 1992 | 2008 | ||||||
|
1.000 | 0.160 | 5 | 179130005 | stop gained | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 2 | 1999 | 2004 | ||||||||
|
5 | 179122253 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
1.000 | 0.160 | 5 | 179128118 | splice acceptor variant | CTGTGCC/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.882 | 0.160 | 5 | 179112381 | 3 prime UTR variant | G/T | snv | 0.25 |
|
Digestive System Diseases; Infections | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
5 | 179339911 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
5 | 179244141 | intron variant | -/A | delins |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
5 | 179268904 | intron variant | A/G | snv | 0.24 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
5 | 179124298 | intron variant | T/G | snv | 0.70 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
5 | 179120312 | 3 prime UTR variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
1.000 | 0.160 | 5 | 179122662 | frameshift variant | T/- | del |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.160 | 5 | 179140026 | frameshift variant | -/A | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.160 | 5 | 179122644 | stop gained | G/A;C | snv | 6.6E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.160 | 5 | 179130005 | stop gained | C/T | snv |
|
Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.882 | 0.160 | 5 | 179112381 | 3 prime UTR variant | G/T | snv | 0.25 |
|
Behavior and Behavior Mechanisms | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.882 | 0.160 | 5 | 179112381 | 3 prime UTR variant | G/T | snv | 0.25 |
|
Behavior and Behavior Mechanisms | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.882 | 0.160 | 5 | 179112381 | 3 prime UTR variant | G/T | snv | 0.25 |
|
Mental Disorders | 0.010 | 1.000 | 1 | 2016 | 2016 |