PTPRK, protein tyrosine phosphatase receptor type K, 5796
N. diseases: 34; N. variants: 17
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.160 | 6 | 127972417 | intron variant | C/T | snv | 0.18 |
|
Digestive System Diseases; Nutritional and Metabolic Diseases | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||||
|
6 | 128012537 | intron variant | G/T | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
6 | 128012537 | intron variant | G/T | snv | 0.21 |
|
Behavior and Behavior Mechanisms | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.040 | 6 | 127988623 | intron variant | A/G;T | snv |
|
Nervous System Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
6 | 128023640 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
0.925 | 0.040 | 6 | 128265251 | intron variant | G/A | snv | 6.3E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.040 | 6 | 128265251 | intron variant | G/A | snv | 6.3E-02 |
|
Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.080 | 6 | 127970054 | 3 prime UTR variant | C/G;T | snv |
|
Respiratory Tract Diseases; Immune System Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
6 | 127973564 | intron variant | T/A | snv | 0.20 |
|
Immune System Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.040 | 6 | 127970926 | intron variant | T/A | snv | 0.14 |
|
Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
6 | 128238459 | intron variant | T/C | snv | 5.9E-04 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
0.882 | 0.160 | 6 | 127972417 | intron variant | C/T | snv | 0.18 |
|
Respiratory Tract Diseases; Immune System Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.882 | 0.160 | 6 | 127972417 | intron variant | C/T | snv | 0.18 |
|
Respiratory Tract Diseases; Immune System Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
6 | 128069835 | intron variant | T/A;C;G | snv |
|
Behavior and Behavior Mechanisms | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
6 | 128034171 | intron variant | A/G | snv | 0.25 |
|
Behavior and Behavior Mechanisms | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
6 | 128209162 | intron variant | G/A | snv | 0.44 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
6 | 128209162 | intron variant | G/A | snv | 0.44 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
6 | 128287066 | intron variant | G/A | snv | 0.55 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
6 | 128287066 | intron variant | G/A | snv | 0.55 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
6 | 128073744 | intron variant | T/C | snv | 0.83 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
6 | 128073744 | intron variant | T/C | snv | 0.83 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.120 | 6 | 127972787 | intron variant | C/A | snv | 0.14 |
|
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.080 | 6 | 127972910 | intron variant | C/T | snv | 0.12 |
|
Digestive System Diseases; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1.000 | 0.080 | 6 | 127979804 | intron variant | G/A | snv | 8.5E-02 |
|
Digestive System Diseases; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 |