HECW1, HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1, 23072
N. diseases: 13; N. variants: 12
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 | 7 | 43337677 | intron variant | A/C | snv | 5.2E-02 |
|
Nervous System Diseases; Mental Disorders | 0.800 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1.000 | 0.040 | 7 | 43441841 | intron variant | A/G | snv | 5.6E-02 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 7 | 43441857 | intron variant | A/G | snv | 0.18 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 7 | 43435480 | intron variant | G/A | snv | 0.18 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 7 | 43434488 | intron variant | A/G | snv | 0.13 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 7 | 43434275 | intron variant | G/A | snv | 8.6E-02 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 7 | 43434218 | intron variant | G/T | snv | 0.65 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 7 | 43441038 | intron variant | G/A | snv | 0.11 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
7 | 43492135 | missense variant | G/C | snv | 1.1E-03 | 9.3E-04 |
|
Digestive System Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
7 | 43187042 | intron variant | A/G | snv | 2.8E-02 |
|
Behavior and Behavior Mechanisms | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
7 | 43187042 | intron variant | A/G | snv | 2.8E-02 |
|
Behavior and Behavior Mechanisms | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
1.000 | 0.040 | 7 | 43176015 | intron variant | C/T | snv | 0.13 |
|
Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.120 | 7 | 43339245 | intron variant | G/A;T | snv |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 |