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: rs1555968941
rs1555968941
0.752 0.280 12 2653847 missense variant G/A;C snv
CUI: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0