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: rs387906904
rs387906904
0.851 0.080 12 109803009 missense variant G/A snv
CUI: C0393541
Disease: Distal Spinal Muscular Atrophy
Distal Spinal Muscular Atrophy
Nervous System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs876661124
rs876661124
0.882 0.160 12 109814507 missense variant G/C snv
CUI: C0393541
Disease: Distal Spinal Muscular Atrophy
Distal Spinal Muscular Atrophy
Nervous System Diseases 0.010 1.000 1 2012 2012