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 | 0.080 | 10 | 33186354 | missense variant | C/T | snv | 0.12 | 9.4E-02 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.820 | 1.000 | 3 | 2013 | 2018 | ||||||
|
10 | 33179196 | 3 prime UTR variant | A/G | snv | 0.21 |
|
Nervous System Diseases | 0.710 | 1.000 | 2 | 2016 | 2018 | |||||||||
|
10 | 33198261 | intron variant | A/C | snv | 0.23 |
|
Infections; Immune System Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
10 | 33198261 | intron variant | A/C | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
10 | 33270391 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
1.000 | 0.040 | 10 | 33272632 | intron variant | A/G | snv | 0.18 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 10 | 33272646 | intron variant | C/T | snv | 0.12 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
10 | 33196550 | intron variant | G/A;T | snv | 0.46 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
10 | 33189289 | intron variant | C/T | snv | 0.48 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
10 | 33207055 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
10 | 33191785 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
1.000 | 0.080 | 10 | 33178180 | 3 prime UTR variant | G/A | snv | 0.50 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.080 | 10 | 33186354 | missense variant | C/T | snv | 0.12 | 9.4E-02 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1.000 | 0.080 | 10 | 33186354 | missense variant | C/T | snv | 0.12 | 9.4E-02 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1.000 | 0.040 | 10 | 33221802 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
Eye Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
0.925 | 0.080 | 10 | 33334322 | missense variant | C/T | snv |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.080 | 10 | 33334322 | missense variant | C/T | snv |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2015 | 2015 |