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: rs74315431
rs74315431
0.732 0.080 20 58418318 missense variant C/T snv 4.0E-06
CUI: C0026847
Disease: Spinal Muscular Atrophy
Spinal Muscular Atrophy
Nervous System Diseases 0.010 1.000 1 2013 2013