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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.120 | 9 | 136499229 | missense variant | C/T | snv |
|
0.800 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.882 | 0.240 | 9 | 136517908 | missense variant | A/G | snv |
|
0.800 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.925 | 0.120 | 9 | 136505409 | missense variant | C/T | snv |
|
0.800 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
9 | 136523954 | stop gained | G/A | snv | 6.2E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 1.000 | 19 | 1999 | 2019 | |||||||||
|
1.000 | 9 | 136508989 | frameshift variant | A/- | del |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 1.000 | 19 | 1999 | 2019 | |||||||||
|
1.000 | 9 | 136508989 | frameshift variant | A/- | del |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 19 | 1999 | 2019 | |||||||||
|
1.000 | 9 | 136508989 | frameshift variant | A/- | del |
|
0.700 | 1.000 | 19 | 1999 | 2019 | ||||||||||
|
9 | 136499244 | stop gained | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 1.000 | 19 | 1999 | 2019 | ||||||||||
|
1.000 | 0.080 | 9 | 136513049 | stop gained | G/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.700 | 1.000 | 2 | 2005 | 2016 | ||||||||
|
1.000 | 0.080 | 9 | 136506852 | stop gained | G/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.700 | 1.000 | 2 | 2005 | 2016 | ||||||||
|
1.000 | 0.080 | 9 | 136523014 | missense variant | C/G;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.700 | 1.000 | 2 | 2009 | 2016 | ||||||||
|
1.000 | 9 | 136517800 | missense variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1.000 | 0.040 | 9 | 136501661 | intron variant | T/A | snv | 8.5E-02 |
|
Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.925 | 0.040 | 9 | 136505189 | intron variant | G/A | snv | 7.5E-02 |
|
Digestive System Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.925 | 0.040 | 9 | 136505189 | intron variant | G/A | snv | 7.5E-02 |
|
Digestive System Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.925 | 0.040 | 9 | 136505189 | intron variant | G/A | snv | 7.5E-02 |
|
Digestive System Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1.000 | 9 | 136510689 | missense variant | G/A | snv | 4.2E-06 | 7.0E-06 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 9 | 136505347 | missense variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1.000 | 9 | 136508276 | missense variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1.000 | 9 | 136513108 | stop gained | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1.000 | 9 | 136515368 | frameshift variant | CA/- | delins |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1.000 | 9 | 136519511 | frameshift variant | CAGT/GG | delins |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1.000 | 9 | 136523177 | stop gained | G/A | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
9 | 136498710 | intron variant | G/A | snv | 0.55 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
9 | 136498710 | intron variant | G/A | snv | 0.55 |
|
0.700 | 1.000 | 1 | 2017 | 2017 |