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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.600 | 0.680 | 6 | 31574705 | upstream gene variant | C/T | snv | 8.5E-02 |
|
0.700 | 0 | |||||||||||
|
0.600 | 0.680 | 6 | 31574705 | upstream gene variant | C/T | snv | 8.5E-02 |
|
0.700 | 0 | |||||||||||
|
6 | 31577157 | missense variant | C/T | snv | 8.1E-06 | 7.0E-06 |
|
0.700 | 0 | ||||||||||||
|
0.608 | 0.760 | 6 | 31574531 | upstream gene variant | T/C | snv | 0.19 |
|
Digestive System Diseases | 0.800 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.807 | 0.320 | 6 | 31576050 | intron variant | G/A | snv | 8.4E-02 |
|
Eye Diseases; Immune System Diseases; Endocrine System Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.851 | 0.200 | 6 | 31576412 | intron variant | A/G | snv | 7.1E-02 |
|
Infections; Immune System Diseases | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.851 | 0.200 | 6 | 31576412 | intron variant | A/G | snv | 7.1E-02 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||||
|
6 | 31576865 | intron variant | A/G | snv | 6.9E-02 | 7.7E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 6 | 31578718 | downstream gene variant | G/C | snv | 3.5E-02 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
1.000 | 6 | 31578718 | downstream gene variant | G/C | snv | 3.5E-02 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
1.000 | 6 | 31578718 | downstream gene variant | G/C | snv | 3.5E-02 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
1.000 | 6 | 31578718 | downstream gene variant | G/C | snv | 3.5E-02 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
6 | 31577208 | missense variant | G/T | snv | 4.1E-06 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
1.000 | 0.120 | 6 | 31576808 | missense variant | G/A | snv | 4.1E-06 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
0.925 | 6 | 31576537 | missense variant | C/T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.925 | 6 | 31576537 | missense variant | C/T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.882 | 0.080 | 6 | 31573570 | synonymous variant | C/T | snv | 4.0E-06 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.882 | 0.080 | 6 | 31573570 | synonymous variant | C/T | snv | 4.0E-06 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.882 | 0.080 | 6 | 31573570 | synonymous variant | C/T | snv | 4.0E-06 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.882 | 0.080 | 6 | 31573570 | synonymous variant | C/T | snv | 4.0E-06 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.882 | 0.080 | 6 | 31573570 | synonymous variant | C/T | snv | 4.0E-06 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
1.000 | 0.160 | 6 | 31577126 | synonymous variant | A/G | snv | 7.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases; Immune System Diseases; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.080 | 6 | 31575804 | frameshift variant | AG/- | del |
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.882 | 0.040 | 6 | 31577502 | missense variant | T/C | snv | 7.0E-06 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.882 | 0.040 | 6 | 31577502 | missense variant | T/C | snv | 7.0E-06 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 |