KCNC3, potassium voltage-gated channel subfamily C member 3, 3748
N. diseases: 58; N. variants: 11
Source: ALL
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 | 19 | 50323019 | missense variant | G/C | snv | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 7 | 2006 | 2015 | |||||||
|
1.000 | 0.080 | 19 | 50323182 | missense variant | T/C | snv | 2.6E-03 | 3.2E-03 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 7 | 2006 | 2015 | ||||||
|
1.000 | 0.080 | 19 | 50323026 | missense variant | C/T | snv | 2.0E-04 | 2.7E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 7 | 2006 | 2015 | ||||||
|
1.000 | 0.080 | 19 | 50323524 | missense variant | C/T | snv | 2.2E-04 | 1.9E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.080 | 19 | 50329071 | frameshift variant | TG/- | del |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 19 | 50323856 | missense variant | C/T | snv | 1.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 19 | 50323670 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 19 | 50320284 | missense variant | C/T | snv | 7.5E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.120 | 19 | 50323694 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.820 | 1.000 | 9 | 2006 | 2015 | ||||||||
|
0.925 | 0.120 | 19 | 50323694 | missense variant | C/T | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.925 | 0.120 | 19 | 50323694 | missense variant | C/T | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.925 | 0.120 | 19 | 50323694 | missense variant | C/T | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.925 | 0.200 | 19 | 50323609 | missense variant | G/C;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.800 | 1.000 | 8 | 2006 | 2015 | ||||||||
|
0.925 | 0.200 | 19 | 50323609 | missense variant | G/C;T | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.882 | 0.200 | 19 | 50323685 | missense variant | C/T | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.882 | 0.200 | 19 | 50323685 | missense variant | C/T | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.882 | 0.200 | 19 | 50323685 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.800 | 1.000 | 1 | 2010 | 2010 |