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 | 21 | 33426974 | missense variant | C/A | snv |
|
0.800 | 1.000 | 4 | 2000 | 2013 | ||||||||||
|
1.000 | 0.080 | 21 | 33424455 | intron variant | C/G;T | snv |
|
Respiratory Tract Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 21 | 33426974 | missense variant | C/A | snv |
|
Infections | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.925 | 0.040 | 21 | 33403138 | 5 prime UTR variant | T/C;G | snv |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.040 | 21 | 33403138 | 5 prime UTR variant | T/C;G | snv |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.040 | 21 | 33403138 | 5 prime UTR variant | T/C;G | snv |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 21 | 33421652 | inframe insertion | -/ACAATG | delins |
|
0.700 | 0 | |||||||||||||
|
1.000 | 21 | 33421549 | frameshift variant | AG/- | delins |
|
0.700 | 0 | |||||||||||||
|
1.000 | 21 | 33432275 | inframe deletion | TAACATCTTTAGAGTCGGGCATTTAAG/- | delins |
|
0.700 | 0 | |||||||||||||
|
1.000 | 21 | 33421613 | missense variant | C/T | snv | 7.0E-06 |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.120 | 21 | 33415009 | synonymous variant | G/A | snv | 4.0E-06 | 7.0E-06 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||
|
0.882 | 0.120 | 21 | 33415009 | synonymous variant | G/A | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.882 | 0.120 | 21 | 33415009 | synonymous variant | G/A | snv | 4.0E-06 | 7.0E-06 |
|
Neoplasms; Male Urogenital Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||
|
1.000 | 21 | 33426892 | missense variant | G/A | snv | 7.0E-06 |
|
0.700 | 0 | ||||||||||||
|
0.701 | 0.400 | 21 | 33415005 | missense variant | A/G | snv | 0.20 | 0.18 |
|
Respiratory Tract Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||||
|
0.701 | 0.400 | 21 | 33415005 | missense variant | A/G | snv | 0.20 | 0.18 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
|
0.701 | 0.400 | 21 | 33415005 | missense variant | A/G | snv | 0.20 | 0.18 |
|
Immune System Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
0.701 | 0.400 | 21 | 33415005 | missense variant | A/G | snv | 0.20 | 0.18 |
|
Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
0.701 | 0.400 | 21 | 33415005 | missense variant | A/G | snv | 0.20 | 0.18 |
|
Digestive System Diseases; Infections | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
0.701 | 0.400 | 21 | 33415005 | missense variant | A/G | snv | 0.20 | 0.18 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
0.701 | 0.400 | 21 | 33415005 | missense variant | A/G | snv | 0.20 | 0.18 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
|
0.701 | 0.400 | 21 | 33415005 | missense variant | A/G | snv | 0.20 | 0.18 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
|
0.701 | 0.400 | 21 | 33415005 | missense variant | A/G | snv | 0.20 | 0.18 |
|
Immune System Diseases | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||||
|
0.701 | 0.400 | 21 | 33415005 | missense variant | A/G | snv | 0.20 | 0.18 |
|
Skin and Connective Tissue Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||
|
0.701 | 0.400 | 21 | 33415005 | missense variant | A/G | snv | 0.20 | 0.18 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 |