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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.120 | 2 | 112918756 | missense variant | T/G | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.925 | 0.120 | 2 | 112918756 | missense variant | T/G | snv | 4.0E-06 |
|
Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.851 | 0.200 | 2 | 112914932 | intron variant | A/C;G | snv |
|
Infections | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.851 | 0.200 | 2 | 112914932 | intron variant | A/C;G | snv |
|
Digestive System Diseases; Infections | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
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 | ||||||||
|
0.851 | 0.200 | 2 | 112914932 | intron variant | A/C;G | snv |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
2 | 112918804 | missense variant | G/A;C;T | snv | 6.8E-02; 4.0E-06; 4.0E-06 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
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 | |||||||
|
0.851 | 0.160 | 2 | 112913801 | missense variant | G/A;T | snv | 4.0E-06; 0.71 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.851 | 0.160 | 2 | 112913801 | missense variant | G/A;T | snv | 4.0E-06; 0.71 |
|
Stomatognathic Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.851 | 0.160 | 2 | 112913801 | missense variant | G/A;T | snv | 4.0E-06; 0.71 |
|
Stomatognathic Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.851 | 0.160 | 2 | 112913801 | missense variant | G/A;T | snv | 4.0E-06; 0.71 |
|
Stomatognathic Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
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 | ||||||
|
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 | 112912248 | upstream gene variant | T/C | snv | 9.8E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
2 | 112913313 | intron variant | G/A | snv | 9.8E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
2 | 112912904 | upstream gene variant | G/C | snv | 9.9E-02 |
|
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 | 112912003 | upstream gene variant | C/T | snv | 9.9E-02 |
|
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 | ||||||||||
|
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 | ||||||
|
1.000 | 0.040 | 2 | 112917692 | missense variant | C/T | snv | 6.8E-02 | 1.0E-01 |
|
0.700 | 1.000 | 1 | 2018 | 2018 |