TAP1, transporter 1, ATP binding cassette subfamily B member, 6890
N. diseases: 181; N. variants: 11
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 | 0.040 | 6 | 32854492 | intron variant | A/C | snv | 0.43 |
|
Neoplasms | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||||||
|
1.000 | 0.040 | 6 | 32853670 | synonymous variant | C/T | snv | 9.9E-02 | 8.3E-02 |
|
Stomatognathic Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
0.925 | 0.040 | 6 | 32854240 | missense variant | C/G;T | snv | 1.4E-05; 1.4E-05 |
|
Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.925 | 0.040 | 6 | 32854240 | missense variant | C/G;T | snv | 1.4E-05; 1.4E-05 |
|
Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.080 | 6 | 32850997 | missense variant | T/C | snv | 0.20 | 0.20 |
|
Infections; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1.000 | 0.080 | 6 | 32849181 | non coding transcript exon variant | G/A | snv | 0.71 |
|
Nervous System Diseases; Mental Disorders | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1.000 | 0.080 | 6 | 32848277 | intron variant | G/A | snv | 0.37 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1.000 | 0.120 | 6 | 32852088 | intron variant | T/C | snv | 0.14 | 0.11 |
|
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||||
|
1.000 | 0.120 | 6 | 32855790 | intron variant | G/A | snv | 8.2E-02 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.925 | 0.160 | 6 | 32850901 | intron variant | G/A | snv | 0.18 | 0.17 |
|
Digestive System Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
0.925 | 0.160 | 6 | 32850901 | intron variant | G/A | snv | 0.18 | 0.17 |
|
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||||
|
0.807 | 0.200 | 6 | 32847198 | missense variant | T/C | snv | 0.17 | 0.18 |
|
Skin and Connective Tissue Diseases | 0.020 | 0.500 | 2 | 2014 | 2017 | ||||||
|
0.807 | 0.200 | 6 | 32847198 | missense variant | T/C | snv | 0.17 | 0.18 |
|
Skin and Connective Tissue Diseases | 0.020 | 0.500 | 2 | 2014 | 2017 | ||||||
|
0.807 | 0.200 | 6 | 32847198 | missense variant | T/C | snv | 0.17 | 0.18 |
|
Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
0.807 | 0.200 | 6 | 32847198 | missense variant | T/C | snv | 0.17 | 0.18 |
|
Respiratory Tract Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
0.807 | 0.200 | 6 | 32847198 | missense variant | T/C | snv | 0.17 | 0.18 |
|
Infections; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
0.807 | 0.200 | 6 | 32847198 | missense variant | T/C | snv | 0.17 | 0.18 |
|
Respiratory Tract Diseases; Immune System Diseases; Otorhinolaryngologic Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
0.925 | 0.200 | 6 | 32845139 | non coding transcript exon variant | T/C | snv | 0.61 |
|
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.925 | 0.200 | 6 | 32845139 | non coding transcript exon variant | T/C | snv | 0.61 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.700 | 1.000 | 1 | 2009 | 2009 |