PURA, purine rich element binding protein A, 5813

N. diseases: 83; N. variants: 36
Disease: Abnormal muscle tone ×
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: rs587782995
rs587782995 		0.708 0.360 5 140114480 missense variant T/C snv
CUI: C0852413
Disease: Abnormal muscle tone
Abnormal muscle tone 		Nervous System Diseases 0.700 0