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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 102324878 | intron variant | T/C | snv | 0.66 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
0.925 | 0.080 | 2 | 102309902 | upstream gene variant | G/A | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.080 | 2 | 102309902 | upstream gene variant | G/A | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
2 | 102314488 | intron variant | A/G | snv | 0.55 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
2 | 102340831 | splice region variant | A/G | snv | 1.6E-02 | 1.7E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.827 | 0.280 | 2 | 102341256 | synonymous variant | C/T | snv | 0.33 | 0.35 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | |||||||
|
2 | 102350323 | intron variant | T/C | snv | 0.78 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
0.925 | 0.080 | 2 | 102343750 | 3 prime UTR variant | T/A | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
2 | 102352407 | intron variant | -/TA | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
2 | 102352407 | intron variant | -/TA | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
2 | 102326460 | intron variant | A/C | snv | 0.52 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
2 | 102346612 | intron variant | A/T | snv | 0.36 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
0.882 | 0.080 | 2 | 102319699 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.925 | 0.040 | 2 | 102310521 | upstream gene variant | G/A | snv | 0.54 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.925 | 0.040 | 2 | 102310521 | upstream gene variant | G/A | snv | 0.54 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.827 | 0.280 | 2 | 102341256 | synonymous variant | C/T | snv | 0.33 | 0.35 |
|
Cardiovascular Diseases | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||||
|
0.807 | 0.160 | 2 | 102343821 | 3 prime UTR variant | C/G | snv | 0.21 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.882 | 0.120 | 2 | 102311266 | upstream gene variant | A/G | snv | 0.76 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 2 | 102316102 | intron variant | C/A | snv | 0.30 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 2 | 102316102 | intron variant | C/A | snv | 0.30 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.925 | 0.160 | 2 | 102351752 | missense variant | A/G;T | snv | 0.34 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.882 | 0.160 | 2 | 102349850 | intron variant | G/A | snv | 0.33 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.925 | 0.160 | 2 | 102338193 | 5 prime UTR variant | C/T | snv | 0.18 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1.000 | 0.080 | 2 | 102344364 | 3 prime UTR variant | A/C;G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.080 | 2 | 102351615 | missense variant | T/C;G | snv | 0.34; 4.0E-06 | 0.46 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 |