CIC, capicua transcriptional repressor, 23152

N. diseases: 141; N. variants: 10
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 45 ×
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
CUI: C4539848
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 45
MENTAL RETARDATION, AUTOSOMAL DOMINANT 45 		0.800 1.000 2 2010 2017
dbSNP: rs1135401823
rs1135401823 		1.000 19 42289013 stop gained C/T snv
CUI: C4539848
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 45
MENTAL RETARDATION, AUTOSOMAL DOMINANT 45 		0.700 0
dbSNP: rs1135401824
rs1135401824 		1.000 19 42290567 frameshift variant -/AAGAGACC delins
CUI: C4539848
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 45
MENTAL RETARDATION, AUTOSOMAL DOMINANT 45 		0.700 0
dbSNP: rs1135401825
rs1135401825 		1.000 19 42292173 stop gained C/T snv
CUI: C4539848
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 45
MENTAL RETARDATION, AUTOSOMAL DOMINANT 45 		0.700 0
dbSNP: rs1555769968
rs1555769968 		1.000 19 42291338 frameshift variant ACCCACCACCAGCATC/- delins
CUI: C4539848
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 45
MENTAL RETARDATION, AUTOSOMAL DOMINANT 45 		0.700 0