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: rs267607144
rs267607144
0.716 0.360 12 109800665 missense variant C/T snv
SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE (disorder)
Nervous System Diseases 0.800 1.000 3 2010 2012
dbSNP: rs387906904
rs387906904
0.851 0.080 12 109803009 missense variant G/A snv
SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE (disorder)
Nervous System Diseases 0.800 1.000 3 2010 2012
dbSNP: rs876661124
rs876661124
0.882 0.160 12 109814507 missense variant G/C snv
SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE (disorder)
Nervous System Diseases 0.700 1.000 3 2010 2012
dbSNP: rs267607143
rs267607143
0.851 0.080 12 109798823 missense variant G/A snv 7.0E-06
SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE (disorder)
Nervous System Diseases 0.700 0
dbSNP: rs267607146
rs267607146
0.851 0.080 12 109800666 missense variant G/A;T snv 7.0E-06
SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE (disorder)
Nervous System Diseases 0.700 0
dbSNP: rs397514494
rs397514494
0.925 0.080 12 109808298 missense variant C/T snv
SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE (disorder)
Nervous System Diseases 0.700 0