EYA2, EYA transcriptional coactivator and phosphatase 2, 2139
N. diseases: 58; N. variants: 15
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
20 | 46930192 | intron variant | A/C;G | snv |
|
Behavior and Behavior Mechanisms | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
20 | 46930192 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
20 | 46930192 | intron variant | A/C;G | snv |
|
Behavior and Behavior Mechanisms | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
20 | 46941157 | intron variant | G/T | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
20 | 47131444 | intron variant | T/G | snv | 0.27 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
20 | 46900932 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
0.925 | 0.040 | 20 | 47156382 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.925 | 0.040 | 20 | 47156382 | intron variant | G/A;C | snv |
|
Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 20 | 46966072 | intron variant | G/A;T | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
20 | 46968907 | intron variant | T/C | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
20 | 46900932 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 2 | 2018 | 2019 | |||||||||||
|
20 | 46897482 | intron variant | C/T | snv | 0.33 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
20 | 47129619 | intron variant | A/T | snv | 0.64 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
20 | 46923095 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
20 | 47161314 | non coding transcript exon variant | T/C | snv | 0.59 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
20 | 46921850 | intron variant | T/G | snv | 0.46 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
20 | 46975185 | intron variant | C/T | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
20 | 46975601 | intron variant | T/C | snv | 0.23 |
|
Behavior and Behavior Mechanisms | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
20 | 46975601 | intron variant | T/C | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.040 | 20 | 47052639 | intron variant | T/C | snv | 0.21 |
|
Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 |