CTNNB1, catenin beta 1, 1499

N. diseases: 1368; N. variants: 68
Disease: Muscle hypotonia ×
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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 22 1991 2017
dbSNP: rs1553631770
rs1553631770 		1.000 3 41233398 missense variant A/T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 22 1991 2017
dbSNP: rs1553632361
rs1553632361 		3 41236468 frameshift variant AG/- delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; 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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 22 1991 2017
dbSNP: rs778624338
rs778624338 		1.000 0.080 3 41227270 stop gained C/A;T snv 2.0E-05 7.0E-06
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 22 1991 2017
dbSNP: rs797044875
rs797044875 		1.000 3 41235763 missense variant G/A snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 22 1991 2017