EMSY, EMSY transcriptional repressor, BRCA2 interacting, 56946
N. diseases: 52; 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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
11 | 76551084 | 3 prime UTR variant | A/G | snv | 0.40 |
|
Immune System Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
1.000 | 0.080 | 11 | 76549500 | intron variant | C/- | del | 0.28 |
|
Neoplasms; Male Urogenital Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
11 | 76468072 | intron variant | C/T | snv | 0.40 |
|
Immune System Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
11 | 76543945 | intron variant | C/G | snv | 0.41 |
|
Immune System Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
11 | 76534518 | intron variant | G/A | snv | 0.44 |
|
Immune System Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
11 | 76532857 | intron variant | G/A | snv | 0.40 |
|
Immune System Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
11 | 76453915 | 3 prime UTR variant | T/G | snv | 0.40 |
|
Immune System Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.882 | 0.160 | 11 | 76537586 | intron variant | C/T | snv | 3.1E-02 |
|
Respiratory Tract Diseases; Immune System Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.882 | 0.160 | 11 | 76537586 | intron variant | C/T | snv | 3.1E-02 |
|
Digestive System Diseases; Immune System Diseases; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.882 | 0.160 | 11 | 76537586 | intron variant | C/T | snv | 3.1E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.160 | 11 | 76537586 | intron variant | C/T | snv | 3.1E-02 |
|
Respiratory Tract Diseases; Immune System Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
11 | 76493337 | intron variant | G/A | snv | 0.39 |
|
Immune System Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.925 | 0.080 | 11 | 76463778 | intron variant | A/G | snv | 8.0E-04 | 4.7E-04 |
|
Neoplasms; Male Urogenital Diseases | 0.020 | 1.000 | 2 | 2015 | 2016 | ||||||
|
0.925 | 0.080 | 11 | 76463778 | intron variant | A/G | snv | 8.0E-04 | 4.7E-04 |
|
Neoplasms; Male Urogenital Diseases | 0.020 | 1.000 | 2 | 2015 | 2016 | ||||||
|
0.925 | 0.080 | 11 | 76470587 | intron variant | G/A;T | snv | 5.7E-02 |
|
Neoplasms; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.925 | 0.080 | 11 | 76470587 | intron variant | G/A;T | snv | 5.7E-02 |
|
Neoplasms; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.925 | 0.080 | 11 | 76462904 | intron variant | A/G | snv | 4.0E-02 |
|
Neoplasms; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.925 | 0.080 | 11 | 76462904 | intron variant | A/G | snv | 4.0E-02 |
|
Neoplasms; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 |