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 | 2 | 112918672 | missense variant | G/A | snv | 2.0E-05 | 7.0E-06 |
|
Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
0.807 | 0.400 | 2 | 112913833 | missense variant | A/G | snv | 0.71 | 0.60 |
|
Pathological Conditions, Signs and Symptoms | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
0.807 | 0.400 | 2 | 112913833 | missense variant | A/G | snv | 0.71 | 0.60 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
0.851 | 0.200 | 2 | 112914932 | intron variant | A/C;G | snv |
|
Eye Diseases; Immune System Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.160 | 2 | 112917503 | intron variant | A/G;T | snv | 0.91 |
|
Eye Diseases; Immune System Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.851 | 0.160 | 2 | 112913801 | missense variant | G/A;T | snv | 4.0E-06; 0.71 |
|
Eye Diseases; Immune System Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.807 | 0.400 | 2 | 112913833 | missense variant | A/G | snv | 0.71 | 0.60 |
|
Eye Diseases; Immune System Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
0.851 | 0.200 | 2 | 112914932 | intron variant | A/C;G | snv |
|
Infections | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.160 | 2 | 112917503 | intron variant | A/G;T | snv | 0.91 |
|
Infections | 0.010 | < 0.001 | 1 | 2016 | 2016 | |||||||
|
1.000 | 0.040 | 2 | 112917692 | missense variant | C/T | snv | 6.8E-02 | 1.0E-01 |
|
Infections | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||||
|
0.807 | 0.400 | 2 | 112913833 | missense variant | A/G | snv | 0.71 | 0.60 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
0.807 | 0.400 | 2 | 112913833 | missense variant | A/G | snv | 0.71 | 0.60 |
|
Infections | 0.020 | 0.500 | 2 | 2016 | 2017 | ||||||
|
0.807 | 0.400 | 2 | 112913833 | missense variant | A/G | snv | 0.71 | 0.60 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
0.807 | 0.400 | 2 | 112913833 | missense variant | A/G | snv | 0.71 | 0.60 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.030 | 1.000 | 3 | 2013 | 2018 | ||||||
|
2 | 112913559 | intron variant | C/T | snv | 9.8E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
2 | 112913621 | intron variant | T/C | snv | 9.8E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
2 | 112917132 | missense variant | C/G | snv | 6.8E-02 | 1.0E-01 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
2 | 112918642 | missense variant | T/C | snv | 6.8E-02 | 1.0E-01 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
2 | 112918994 | downstream gene variant | C/A | snv | 9.9E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
2 | 112913372 | intron variant | G/C | snv | 0.10 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
2 | 112912898 | upstream gene variant | A/G | snv | 9.9E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
2 | 112912838 | upstream gene variant | T/A;C | snv | 9.9E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
2 | 112912798 | upstream gene variant | C/T | snv | 9.9E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
2 | 112912248 | upstream gene variant | T/C | snv | 9.8E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
2 | 112912003 | upstream gene variant | C/T | snv | 9.9E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 |