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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.790 | 0.320 | 4 | 38783103 | upstream gene variant | T/A | snv | 0.29 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.040 | 4 | 38775321 | synonymous variant | T/C | snv | 7.0E-03 | 2.9E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
4 | 38774508 | synonymous variant | T/C;G | snv | 1.1E-03; 1.8E-05 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
4 | 38774508 | synonymous variant | T/C;G | snv | 1.1E-03; 1.8E-05 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
4 | 38774508 | synonymous variant | T/C;G | snv | 1.1E-03; 1.8E-05 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
4 | 38774508 | synonymous variant | T/C;G | snv | 1.1E-03; 1.8E-05 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1.000 | 0.080 | 4 | 38774614 | missense variant | A/G | snv | 6.4E-02 | 4.1E-02 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
0.790 | 0.320 | 4 | 38783103 | upstream gene variant | T/A | snv | 0.29 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Immune System Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.790 | 0.320 | 4 | 38783103 | upstream gene variant | T/A | snv | 0.29 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.790 | 0.320 | 4 | 38783103 | upstream gene variant | T/A | snv | 0.29 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.790 | 0.320 | 4 | 38783103 | upstream gene variant | T/A | snv | 0.29 |
|
Endocrine System Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.790 | 0.320 | 4 | 38783103 | upstream gene variant | T/A | snv | 0.29 |
|
Eye Diseases; Immune System Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.790 | 0.320 | 4 | 38783103 | upstream gene variant | T/A | snv | 0.29 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.790 | 0.320 | 4 | 38783103 | upstream gene variant | T/A | snv | 0.29 |
|
Immune System Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
4 | 38783057 | upstream gene variant | C/G | snv | 0.35 |
|
Immune System Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
4 | 38773164 | synonymous variant | A/G | snv | 0.25 | 0.23 |
|
Immune System Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
4 | 38773419 | synonymous variant | A/G | snv | 0.26 | 0.23 |
|
Immune System Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.851 | 0.200 | 4 | 38774486 | missense variant | T/C;G | snv | 4.3E-06; 0.41 |
|
Immune System Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
4 | 38774559 | synonymous variant | C/A;T | snv | 0.25; 4.3E-06 |
|
Immune System Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.790 | 0.160 | 4 | 38774870 | missense variant | T/G | snv | 0.42 | 0.41 |
|
Immune System Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
4 | 38783103 | upstream gene variant | -/A | delins |
|
Immune System Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
1.000 | 0.040 | 4 | 38778850 | intron variant | T/C | snv | 0.13 |
|
Immune System Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
4 | 38777282 | intron variant | G/A;T | snv |
|
Immune System Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
4 | 38776582 | intron variant | A/G;T | snv |
|
Immune System Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
4 | 38782227 | intron variant | T/C | snv | 0.14 |
|
Immune System Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 |