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 | 0.120 | 12 | 6869174 | missense variant | G/C | snv | 7.6E-05 | 1.2E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases | 0.820 | 1.000 | 17 | 1986 | 2017 | ||||||
|
1.000 | 0.120 | 12 | 6870354 | missense variant | T/C | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases | 0.800 | 1.000 | 4 | 1986 | 1997 | |||||||
|
1.000 | 0.120 | 12 | 6868873 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases | 0.800 | 1.000 | 4 | 1986 | 1997 | ||||||
|
1.000 | 0.120 | 12 | 6869741 | missense variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases | 0.800 | 1.000 | 4 | 1986 | 1997 | ||||||||
|
1.000 | 12 | 6869300 | missense variant | G/A | snv | 1.6E-05 |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 12 | 6869369 | stop gained | G/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||
|
0.851 | 0.200 | 12 | 6870074 | missense variant | G/A | snv |
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.851 | 0.200 | 12 | 6870074 | missense variant | G/A | snv |
|
Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||
|
0.851 | 0.200 | 12 | 6870074 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.200 | 12 | 6870074 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||
|
0.851 | 0.200 | 12 | 6870074 | missense variant | G/A | snv |
|
Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.851 | 0.200 | 12 | 6870074 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
0.851 | 0.200 | 12 | 6870074 | missense variant | G/A | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 12 | 6869693 | missense variant | G/A | snv | 1.2E-03 | 1.2E-03 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.120 | 12 | 6870355 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 12 | 6867593 | frameshift variant | -/G | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 12 | 6869174 | missense variant | G/C | snv | 7.6E-05 | 1.2E-04 |
|
Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1.000 | 0.120 | 12 | 6869741 | missense variant | A/G | snv |
|
Behavior and Behavior Mechanisms | 0.010 | 1.000 | 1 | 2015 | 2015 |