DLG3, discs large MAGUK scaffold protein 3, 1741

N. diseases: 144; N. variants: 11
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: rs1213060424
rs1213060424 		X 70449787 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 6 2004 2017
dbSNP: rs1241142887
rs1241142887 		1.000 X 70445552 stop gained T/A;C snv 8.3E-06 9.4E-06
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 6 2004 2017