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 | 12 | 115969097 | missense variant | T/C | snv | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.800 | 1.000 | 1 | 2003 | 2003 | |||||||
|
12 | 115963489 | stop gained | G/A | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 16 | 1971 | 2018 | ||||||||||
|
1.000 | 12 | 115966138 | stop gained | G/A | snv |
|
0.700 | 1.000 | 16 | 1971 | 2018 | ||||||||||
|
1.000 | 12 | 115966138 | stop gained | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 1.000 | 16 | 1971 | 2018 | |||||||||
|
1.000 | 12 | 115966189 | missense variant | G/T | snv |
|
0.700 | 1.000 | 16 | 1971 | 2018 | ||||||||||
|
1.000 | 12 | 115966189 | missense variant | G/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 1.000 | 16 | 1971 | 2018 | |||||||||
|
1.000 | 12 | 115982526 | missense variant | A/T | snv |
|
0.700 | 1.000 | 16 | 1971 | 2018 | ||||||||||
|
1.000 | 12 | 115982526 | missense variant | A/T | snv |
|
Nervous System Diseases | 0.700 | 1.000 | 16 | 1971 | 2018 | |||||||||
|
1.000 | 12 | 115987290 | splice acceptor variant | T/C | snv |
|
0.700 | 1.000 | 16 | 1971 | 2018 | ||||||||||
|
1.000 | 12 | 115987290 | splice acceptor variant | T/C | snv |
|
0.700 | 1.000 | 16 | 1971 | 2018 | ||||||||||
|
1.000 | 12 | 116006413 | splice acceptor variant | T/C | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 16 | 1971 | 2018 | |||||||||
|
1.000 | 12 | 116006413 | splice acceptor variant | T/C | snv |
|
0.700 | 1.000 | 16 | 1971 | 2018 | ||||||||||
|
1.000 | 12 | 116008553 | frameshift variant | CCC/TGTTCGAG | delins |
|
Nervous System Diseases | 0.700 | 1.000 | 16 | 1971 | 2018 | |||||||||
|
1.000 | 12 | 116008553 | frameshift variant | CCC/TGTTCGAG | delins |
|
0.700 | 1.000 | 16 | 1971 | 2018 | ||||||||||
|
1.000 | 12 | 116009052 | stop gained | G/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 1.000 | 16 | 1971 | 2018 | |||||||||
|
1.000 | 12 | 116009052 | stop gained | G/C | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 16 | 1971 | 2018 | |||||||||
|
1.000 | 12 | 116009052 | stop gained | G/C | snv |
|
0.700 | 1.000 | 16 | 1971 | 2018 | ||||||||||
|
12 | 116092030 | intron variant | G/C | snv | 0.17 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.925 | 0.080 | 12 | 115997221 | missense variant | T/C | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 12 | 116003068 | frameshift variant | G/- | delins |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
1.000 | 0.080 | 12 | 115987146 | stop gained | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | 12 | 115987289 | splice acceptor variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.080 | 12 | 116012902 | splice acceptor variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.080 | 12 | 116019846 | missense variant | T/C | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2003 | 2003 | |||||||
|
1.000 | 0.080 | 12 | 115975287 | missense variant | C/T | snv | 8.0E-06 | 1.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2003 | 2003 |