EPB41L1, erythrocyte membrane protein band 4.1 like 1, 2036
N. diseases: 13; 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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
20 | 36123170 | intron variant | G/A;C | snv | 7.0E-03 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
20 | 36123916 | intron variant | A/G | snv | 3.0E-02 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
20 | 36123916 | intron variant | A/G | snv | 3.0E-02 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
20 | 36147283 | intron variant | A/C | snv | 2.8E-02 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
20 | 36147283 | intron variant | A/C | snv | 2.8E-02 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
0.925 | 0.040 | 20 | 36115138 | intron variant | G/T | snv | 5.4E-02 |
|
Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.925 | 0.040 | 20 | 36115138 | intron variant | G/T | snv | 5.4E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
20 | 36083257 | intron variant | A/G | snv | 0.41 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
20 | 36156000 | intron variant | T/C | snv | 5.8E-02 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
20 | 36156000 | intron variant | T/C | snv | 5.8E-02 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
20 | 36124388 | intron variant | T/C | snv | 0.38 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
20 | 36124388 | intron variant | T/C | snv | 0.38 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
20 | 36124388 | intron variant | T/C | snv | 0.38 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
20 | 36155242 | non coding transcript exon variant | G/C | snv | 5.3E-02 | 5.8E-02 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
20 | 36155242 | non coding transcript exon variant | G/C | snv | 5.3E-02 | 5.8E-02 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
20 | 36209731 | missense variant | C/T | snv | 2.0E-05 |
|
0.700 | 0 |