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 |
|
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases | 1.000 | 0.950 | 80 | 2004 | 2020 | ||||||
|
0.925 | 0.120 | 1 | 113886839 | intron variant | G/A | snv | 0.16 |
|
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1.000 | 0.120 | 1 | 113875583 | intron variant | A/C | snv | 0.58 |
|
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1.000 | 0.120 | 1 | 113814589 | 3 prime UTR variant | G/A | snv | 0.78 |
|
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
1.000 | 0.120 | 1 | 113859282 | intron variant | T/G | snv | 0.56 |
|
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.925 | 0.200 | 1 | 113877706 | 3 prime UTR variant | C/A;T | snv |
|
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases | 0.010 | < 0.001 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.120 | 1 | 113856592 | missense variant | G/T | snv | 7.0E-06 |
|
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.763 | 0.480 | 1 | 113872746 | intron variant | G/A;C | snv |
|
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.776 | 0.360 | 1 | 113812320 | synonymous variant | T/A;C;G | snv | 8.5E-06; 1.3E-05; 0.17 |
|
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases | 0.010 | < 0.001 | 1 | 2010 | 2010 | |||||||
|
1.000 | 0.120 | 1 | 113829592 | missense variant | C/G | snv | 5.8E-03 | 5.9E-03 |
|
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 |