PRUNE1, prune exopolyphosphatase 1, 58497

N. diseases: 51; N. variants: 12
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: rs1553251507
rs1553251507 		1 151008634 frameshift variant -/GGAGG delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 4 2012 2017
dbSNP: rs1553253812
rs1553253812 		1 151025654 frameshift variant G/- delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 4 2012 2017