CLIC2, chloride intracellular channel 2, 1193

N. diseases: 39; N. variants: 1
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.
dbSNP: rs398122917
rs398122917
0.882 0.080 X 155280059 missense variant G/C snv 4.4E-05 1.1E-04
MENTAL RETARDATION, X-LINKED, SYNDROMIC 32
0.800 1.000 1 2012 2012
dbSNP: rs398122917
rs398122917
0.882 0.080 X 155280059 missense variant G/C snv 4.4E-05 1.1E-04
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs398122917
rs398122917
0.882 0.080 X 155280059 missense variant G/C snv 4.4E-05 1.1E-04
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.010 1.000 1 2012 2012
dbSNP: rs398122917
rs398122917
0.882 0.080 X 155280059 missense variant G/C snv 4.4E-05 1.1E-04
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs398122917
rs398122917
0.882 0.080 X 155280059 missense variant G/C snv 4.4E-05 1.1E-04
CUI: C0036572
Disease: Seizures
Seizures
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2012 2012