TSPEAR-AS1, TSPEAR antisense RNA 1, 54082

N. diseases: 16; N. variants: 4
Disease: Muscular hypotonia of the trunk ×
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: rs1569151872
rs1569151872 		0.851 0.240 21 44509225 frameshift variant GAC/AA delins
CUI: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2016 2016