CIC, capicua transcriptional repressor, 23152

N. diseases: 141; N. variants: 10
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: rs373584239
rs373584239
1.000 19 42290242 missense variant C/A;T snv 1.2E-05; 4.0E-06
MENTAL RETARDATION, AUTOSOMAL DOMINANT 45
0.800 1.000 2 2010 2017
dbSNP: rs1555773554
rs1555773554
19 42294295 frameshift variant -/A delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 4 2010 2017
dbSNP: rs112808618
rs112808618
19 42266834 upstream gene variant T/A;C snv
CUI: C0005890
Disease: Body Height
Body Height
0.700 1.000 1 2019 2019
dbSNP: rs1135401823
rs1135401823
1.000 19 42289013 stop gained C/T snv
MENTAL RETARDATION, AUTOSOMAL DOMINANT 45
0.700 0
dbSNP: rs1135401824
rs1135401824
1.000 19 42290567 frameshift variant -/AAGAGACC delins
MENTAL RETARDATION, AUTOSOMAL DOMINANT 45
0.700 0
dbSNP: rs1135401825
rs1135401825
1.000 19 42292173 stop gained C/T snv
MENTAL RETARDATION, AUTOSOMAL DOMINANT 45
0.700 0
dbSNP: rs1555769968
rs1555769968
1.000 19 42291338 frameshift variant ACCCACCACCAGCATC/- delins
MENTAL RETARDATION, AUTOSOMAL DOMINANT 45
0.700 0
dbSNP: rs1568503055
rs1568503055
1.000 0.040 19 42287078 frameshift variant -/T ins
Well Differentiated Oligodendroglioma
Neoplasms 0.700 0
dbSNP: rs1568504941
rs1568504941
1.000 0.040 19 42287605 missense variant C/T snv
CUI: C0334590
Disease: Anaplastic Oligodendroglioma
Anaplastic Oligodendroglioma
Neoplasms 0.700 0
dbSNP: rs770323488
rs770323488
1.000 0.080 19 42290722 missense variant G/A;C snv 3.7E-05; 2.5E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.700 0