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 | 3 | 3146489 | missense variant | T/C | snv | 3.2E-05 | 7.7E-05 |
|
0.810 | 1.000 | 2 | 2014 | 2018 | ||||||||
|
1.000 | 3 | 3144671 | missense variant | G/C;T | snv | 4.2E-06 |
|
0.810 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.925 | 0.160 | 3 | 3151023 | missense variant | A/G | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms | 0.800 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
3 | 3156696 | non coding transcript exon variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
1.000 | 3 | 3148095 | missense variant | A/G | snv | 5.6E-05 | 3.5E-05 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
3 | 3163458 | intron variant | T/G | snv | 0.17 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
0.925 | 0.200 | 3 | 3150939 | stop gained | G/A | snv | 8.0E-06 | 7.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms | 0.700 | 0 | |||||||||
|
1.000 | 3 | 3147991 | stop gained | -/ATGT | ins |
|
0.700 | 0 | |||||||||||||
|
0.925 | 3 | 3148095 | frameshift variant | A/-;AA | delins |
|
0.700 | 0 | |||||||||||||
|
0.925 | 3 | 3148095 | frameshift variant | A/-;AA | delins |
|
0.700 | 0 | |||||||||||||
|
1.000 | 3 | 3146404 | intron variant | T/C | snv | 8.5E-06 |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.200 | 3 | 3150939 | stop gained | G/A | snv | 8.0E-06 | 7.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms | 0.030 | 1.000 | 3 | 2008 | 2015 | ||||||
|
0.925 | 0.200 | 3 | 3150939 | stop gained | G/A | snv | 8.0E-06 | 7.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms | 0.020 | 1.000 | 2 | 2008 | 2013 | ||||||
|
1.000 | 0.160 | 3 | 3149742 | non coding transcript exon variant | T/C | snv | 0.15 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1.000 | 0.120 | 3 | 3151243 | intron variant | T/G | snv | 0.52 |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.882 | 0.240 | 3 | 3179746 | upstream gene variant | C/T | snv | 0.71 |
|
Pathological Conditions, Signs and Symptoms | 0.010 | < 0.001 | 1 | 2019 | 2019 | |||||||
|
0.882 | 0.240 | 3 | 3179746 | upstream gene variant | C/T | snv | 0.71 |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.882 | 0.240 | 3 | 3179746 | upstream gene variant | C/T | snv | 0.71 |
|
Pathological Conditions, Signs and Symptoms | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.882 | 0.240 | 3 | 3179746 | upstream gene variant | C/T | snv | 0.71 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.040 | 3 | 3147230 | intron variant | C/G | snv | 0.53 |
|
Pathological Conditions, Signs and Symptoms | 0.010 | < 0.001 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.160 | 3 | 3180101 | upstream gene variant | A/C;G | snv |
|
Pathological Conditions, Signs and Symptoms | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.160 | 3 | 3180101 | upstream gene variant | A/C;G | snv |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.160 | 3 | 3178805 | intron variant | T/C | snv | 0.51 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.925 | 0.160 | 3 | 3151023 | missense variant | A/G | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms | 0.010 | 1.000 | 1 | 2017 | 2017 |