AP4B1-AS1, AP4B1 antisense RNA 1, 100287722
N. diseases: 13; N. variants: 38
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 1.000 | 0.877 | 81 | 2005 | 2019 | ||||||
|
0.925 | 0.200 | 1 | 113877706 | 3 prime UTR variant | C/A;T | snv |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.710 | 0.500 | 2 | 2009 | 2010 | ||||||||
|
1.000 | 0.120 | 1 | 113875221 | intron variant | G/A;T | snv |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.710 | 1.000 | 2 | 2009 | 2017 | ||||||||
|
0.851 | 0.160 | 1 | 113891324 | intron variant | G/A | snv | 0.42 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.120 | 1 | 113851126 | intron variant | A/G | snv | 0.77 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1.000 | 0.120 | 1 | 113815128 | intron variant | G/A | snv | 0.82 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.925 | 0.120 | 1 | 113858609 | intron variant | A/G | snv | 0.53 | 0.57 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1.000 | 0.120 | 1 | 113877840 | 3 prime UTR variant | G/A | snv | 0.26 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.732 | 0.400 | 1 | 113852067 | missense variant | C/T | snv | 1.7E-02 | 1.6E-02 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.040 | 1.000 | 4 | 2011 | 2019 | ||||||
|
0.776 | 0.360 | 1 | 113812320 | synonymous variant | T/A;C;G | snv | 8.5E-06; 1.3E-05; 0.17 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.020 | 0.500 | 2 | 2007 | 2010 | |||||||
|
0.882 | 0.360 | 1 | 113830881 | intron variant | A/C;G | snv | 0.56 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.010 | < 0.001 | 1 | 2010 | 2010 | |||||||
|
0.763 | 0.480 | 1 | 113872746 | intron variant | G/A;C | snv |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 |