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 | 1 | 156873822 | missense variant | G/A;C | snv | 1.2E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.925 | 0.120 | 1 | 156815190 | missense variant | T/C | snv | 0.64 | 0.57 |
|
Endocrine System Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1.000 | 0.080 | 1 | 156876426 | frameshift variant | T/- | del | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 1 | 156879363 | splice donor variant | G/T | snv | 8.3E-06 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.080 | 1 | 156874963 | frameshift variant | -/TTGT | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 1 | 156881590 | missense variant | G/A;C | snv | 4.8E-03; 4.1E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 1 | 156866974 | stop gained | G/A;T | snv | 2.8E-05 | 2.7E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.080 | 1 | 156861141 | frameshift variant | TG/- | del | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.040 | 1 | 156864760 | missense variant | C/A;T | snv | 4.0E-06; 5.6E-05 | 2.1E-05 |
|
Neoplasms | 0.700 | 0 | |||||||||
|
0.925 | 0.160 | 1 | 156864394 | missense variant | C/A;T | snv | 4.0E-06; 1.2E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.160 | 1 | 156864394 | missense variant | C/A;T | snv | 4.0E-06; 1.2E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 1 | 156868651 | splice region variant | A/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 1 | 156876128 | missense variant | G/A | snv | 4.0E-06 | 1.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.080 | 1 | 156879276 | missense variant | C/T | snv | 1.6E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 1 | 156880092 | missense variant | G/A | snv | 1.6E-05 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.080 | 1 | 156879262 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 1 | 156860959 | stop gained | C/A;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 1 | 156873600 | intron variant | T/A | snv | 3.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 1 | 156876427 | frameshift variant | C/- | del |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 1 | 156879176 | frameshift variant | -/T | ins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 1 | 156868201 | stop gained | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 1 | 156868159 | missense variant | T/A;C | snv | 4.0E-06; 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.030 | 1.000 | 3 | 2010 | 2018 | |||||||
|
1.000 | 0.080 | 1 | 156866944 | missense variant | T/C | snv | 8.0E-06 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.030 | 1.000 | 3 | 2010 | 2018 | ||||||
|
1.000 | 0.080 | 1 | 156842164 | synonymous variant | A/G | snv | 4.0E-06 | 1.4E-05 |
|
Nutritional and Metabolic Diseases; Nervous System Diseases | 0.020 | 1.000 | 2 | 2016 | 2017 | ||||||
|
1.000 | 0.080 | 1 | 156868159 | missense variant | T/A;C | snv | 4.0E-06; 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms | 0.020 | 1.000 | 2 | 2010 | 2011 |