AP3D1, adaptor related protein complex 3 subunit delta 1, 8943
N. diseases: 58; 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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
19 | 2161322 | intron variant | T/C | snv | 0.46 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
19 | 2155043 | intron variant | G/A | snv | 0.29 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
19 | 2154724 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
19 | 2136516 | intron variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
19 | 2136103 | intron variant | T/C | snv | 0.50 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
19 | 2140010 | intron variant | C/T | snv | 0.50 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
19 | 2149695 | intron variant | T/C | snv | 0.50 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
19 | 2135715 | intron variant | T/G | snv | 6.4E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
19 | 2127273 | intron variant | A/G | snv | 0.32 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
19 | 2161322 | intron variant | T/C | snv | 0.46 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
19 | 2161322 | intron variant | T/C | snv | 0.46 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
19 | 2157168 | intron variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
19 | 2157168 | intron variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
0.925 | 0.040 | 19 | 2109158 | missense variant | T/C;G | snv | 0.12; 4.8E-04 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.040 | 19 | 2109158 | missense variant | T/C;G | snv | 0.12; 4.8E-04 |
|
Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.080 | 19 | 2160530 | intron variant | C/A;T | snv |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.800 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 19 | 2102255 | frameshift variant | CA/- | delins |
|
0.700 | 0 |