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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.542 | 0.840 | 6 | 43770613 | 5 prime UTR variant | C/G | snv | 0.68 |
|
0.700 | 0 | |||||||||||
|
6 | 43770888 | missense variant | G/C | snv | 2.1E-05 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2001 | 2001 | |||||||||
|
0.882 | 0.080 | 6 | 43774362 | missense variant | G/C | snv | 4.0E-06 | 7.0E-06 |
|
Neoplasms | 0.030 | 1.000 | 3 | 2002 | 2011 | ||||||
|
0.851 | 0.240 | 6 | 43781990 | missense variant | T/G | snv | 7.0E-06 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||||
|
0.851 | 0.240 | 6 | 43781990 | missense variant | T/G | snv | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||||
|
0.851 | 0.240 | 6 | 43781990 | missense variant | T/G | snv | 7.0E-06 |
|
Neoplasms; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||||
|
0.882 | 0.080 | 6 | 43774362 | missense variant | G/C | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2002 | 2002 | |||||||
|
0.882 | 0.080 | 6 | 43774362 | missense variant | G/C | snv | 4.0E-06 | 7.0E-06 |
|
Pathological Conditions, Signs and Symptoms | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||||
|
0.882 | 0.080 | 6 | 43774362 | missense variant | G/C | snv | 4.0E-06 | 7.0E-06 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||||
|
0.790 | 0.200 | 6 | 43782020 | missense variant | T/A;C | snv | 4.0E-06; 4.0E-06 | 7.0E-06 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||||
|
0.790 | 0.200 | 6 | 43782020 | missense variant | T/A;C | snv | 4.0E-06; 4.0E-06 | 7.0E-06 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||||
|
0.790 | 0.200 | 6 | 43782020 | missense variant | T/A;C | snv | 4.0E-06; 4.0E-06 | 7.0E-06 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||||
|
0.574 | 0.720 | 6 | 43770966 | missense variant | G/A | snv |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
0.925 | 0.040 | 6 | 43778482 | missense variant | A/G | snv | 7.0E-06 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||||
|
0.925 | 0.040 | 6 | 43778482 | missense variant | A/G | snv | 7.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Neoplasms | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||||
|
0.925 | 0.040 | 6 | 43778482 | missense variant | A/G | snv | 7.0E-06 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||||
|
0.925 | 0.040 | 6 | 43778482 | missense variant | A/G | snv | 7.0E-06 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||||
|
0.882 | 0.080 | 6 | 43774362 | missense variant | G/C | snv | 4.0E-06 | 7.0E-06 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||||
|
0.882 | 0.080 | 6 | 43774362 | missense variant | G/C | snv | 4.0E-06 | 7.0E-06 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||||
|
0.542 | 0.840 | 6 | 43770613 | 5 prime UTR variant | C/G | snv | 0.68 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||||
|
0.827 | 0.200 | 6 | 43782077 | missense variant | C/G;T | snv | 8.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||||
|
0.827 | 0.200 | 6 | 43782077 | missense variant | C/G;T | snv | 8.0E-06 |
|
Nervous System Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||||
|
0.827 | 0.200 | 6 | 43782077 | missense variant | C/G;T | snv | 8.0E-06 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||||
|
0.574 | 0.720 | 6 | 43770966 | missense variant | G/A | snv |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.040 | 1.000 | 4 | 2005 | 2018 | ||||||||
|
0.542 | 0.840 | 6 | 43770613 | 5 prime UTR variant | C/G | snv | 0.68 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.040 | 0.750 | 4 | 2005 | 2013 |