CTNNB1, catenin beta 1, 1499

N. diseases: 1368; N. variants: 68
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: rs1064796453
rs1064796453
3 41235799 stop gained C/A;T snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
Nervous System Diseases 0.700 1.000 22 1991 2017
dbSNP: rs1553631783
rs1553631783
3 41233416 frameshift variant G/- delins
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
Nervous System Diseases 0.700 1.000 22 1991 2017
dbSNP: rs775104326
rs775104326
0.776 0.160 3 41224995 stop gained C/A;T snv 4.0E-06
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
Nervous System Diseases 0.700 1.000 22 1991 2017