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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.120 | 19 | 40395144 | stop gained | G/A | snv | 8.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.710 | 1.000 | 5 | 2001 | 2016 | |||||||
|
0.851 | 0.120 | 19 | 40395144 | stop gained | G/A | snv | 8.0E-06 |
|
Immune System Diseases; Nervous System Diseases | 0.700 | 1.000 | 5 | 2001 | 2016 | |||||||
|
1.000 | 0.080 | 19 | 40397250 | stop gained | G/A;C | snv | 4.0E-06; 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 5 | 2001 | 2016 | |||||||
|
1.000 | 0.080 | 19 | 40395498 | frameshift variant | -/A | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 5 | 2004 | 2016 | ||||||||
|
1.000 | 0.080 | 19 | 40395337 | frameshift variant | -/A | ins | 8.0E-06 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 4 | 2004 | 2016 | ||||||
|
1.000 | 0.080 | 19 | 40396063 | frameshift variant | A/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 4 | 2001 | 2013 | ||||||||
|
0.851 | 0.120 | 19 | 40395144 | stop gained | G/A | snv | 8.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 2 | 2004 | 2004 | |||||||
|
0.925 | 0.080 | 19 | 40395495 | stop gained | G/A | snv | 3.2E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 2 | 2001 | 2004 | |||||||
|
1.000 | 0.080 | 19 | 40396962 | stop gained | G/A;C | snv | 4.0E-06; 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 2 | 2002 | 2017 | |||||||
|
0.882 | 0.080 | 19 | 40396207 | stop gained | A/T | snv | 8.0E-06 | 5.6E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 1 | 2002 | 2002 | ||||||
|
0.925 | 0.080 | 19 | 40395495 | stop gained | G/A | snv | 3.2E-05 |
|
0.700 | 1.000 | 1 | 2001 | 2001 | ||||||||
|
1.000 | 0.080 | 19 | 40398648 | frameshift variant | T/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 1 | 2002 | 2002 | ||||||||
|
1.000 | 0.040 | 19 | 40407632 | non coding transcript exon variant | C/T | snv | 0.28 |
|
Otorhinolaryngologic Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1.000 | 0.080 | 19 | 40398770 | stop gained | G/A;C | snv | 8.1E-06; 1.2E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1.000 | 0.080 | 19 | 40395565 | frameshift variant | G/- | delins | 9.9E-05 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 1 | 2001 | 2001 | ||||||
|
0.925 | 0.080 | 19 | 40397766 | stop gained | G/A;C;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.080 | 19 | 40396207 | stop gained | A/T | snv | 8.0E-06 | 5.6E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||
|
0.851 | 0.120 | 19 | 40395144 | stop gained | G/A | snv | 8.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 19 | 40394649 | stop gained | C/A;T | snv | 4.1E-06 | 1.4E-05 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 19 | 40397340 | frameshift variant | C/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 19 | 40397373 | frameshift variant | C/- | delins |
|
0.700 | 0 | |||||||||||||
|
1.000 | 19 | 40398754 | frameshift variant | G/- | delins |
|
0.700 | 0 | |||||||||||||
|
1.000 | 19 | 40396254 | frameshift variant | C/- | delins |
|
0.700 | 0 | |||||||||||||
|
1.000 | 19 | 40396401 | missense variant | C/A;G;T | snv | 4.0E-06; 9.2E-05 |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 19 | 40397853 | missense variant | G/A | snv | 1.6E-04 | 6.1E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 |