BLOC1S3, biogenesis of lysosomal organelles complex 1 subunit 3, 388552
N. diseases: 32; N. variants: 14
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 | 19 | 45205150 | intron variant | T/C | snv | 0.27 |
|
Nervous System Diseases; Mental Disorders | 0.700 | 1.000 | 2 | 2018 | 2019 | |||||||
|
1.000 | 0.080 | 19 | 45208340 | intron variant | C/T | snv | 0.26 |
|
Nervous System Diseases; Mental Disorders | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
19 | 45212232 | intron variant | T/C | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
19 | 45212232 | intron variant | T/C | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1.000 | 0.080 | 19 | 45188312 | intron variant | C/T | snv | 4.8E-02 |
|
Nervous System Diseases; Mental Disorders | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
19 | 45212934 | 3 prime UTR variant | G/C | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1.000 | 0.080 | 19 | 45187692 | non coding transcript exon variant | C/G | snv | 0.13 |
|
Nervous System Diseases; Mental Disorders | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.080 | 19 | 45193381 | intron variant | G/T | snv | 1.2E-02 |
|
Nervous System Diseases; Mental Disorders | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
19 | 45192480 | intron variant | T/C | snv | 0.36 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
19 | 45192480 | intron variant | T/C | snv | 0.36 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
19 | 45212718 | 3 prime UTR variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
0.925 | 0.080 | 19 | 45205630 | intron variant | T/A;C;G | snv |
|
Infections; Nervous System Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.080 | 19 | 45203694 | intron variant | A/G | snv | 0.47 |
|
Nervous System Diseases; Mental Disorders | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.080 | 19 | 45209421 | intron variant | G/A | snv | 4.0E-02 |
|
Nervous System Diseases; Mental Disorders | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 19 | 45179427 | stop gained | C/A | snv |
|
0.700 | 0 | |||||||||||||
|
0.925 | 0.200 | 19 | 45179742 | frameshift variant | C/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.200 | 19 | 45179742 | frameshift variant | C/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 19 | 45205630 | intron variant | T/A;C;G | snv |
|
Nervous System Diseases; Mental Disorders | 0.030 | 1.000 | 3 | 2011 | 2017 | ||||||||
|
0.925 | 0.080 | 19 | 45205630 | intron variant | T/A;C;G | snv |
|
Nervous System Diseases; Mental Disorders | 0.020 | 0.500 | 2 | 2011 | 2012 |