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: rs1345176461
rs1345176461
0.716 0.240 14 77027231 stop gained G/A;T snv 4.3E-06
CUI: C0426970
Disease: Spastic Quadriplegia
Spastic Quadriplegia
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0