PURA, purine rich element binding protein A, 5813

N. diseases: 83; N. variants: 36
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: rs1554128999
rs1554128999 		5 140114186 frameshift variant GACCG/- delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 17 1991 2018
dbSNP: rs1554129039
rs1554129039 		1.000 5 140114334 frameshift variant A/- del
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 17 1991 2018
dbSNP: rs1554129113
rs1554129113 		5 140114873 missense variant T/C snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 17 1991 2018
dbSNP: rs793888527
rs793888527 		1.000 5 140114744 missense variant T/C snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 17 1991 2018