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: rs1171108843
rs1171108843
0.925 0.040 11 65079421 stop lost T/C snv
CUI: C0026847
Disease: Spinal Muscular Atrophy
Spinal Muscular Atrophy
Nervous System Diseases 0.010 1.000 1 2015 2015