Disease: Spinal Muscular Atrophy
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs763459583
MAPT
0.882 0.080 17 45987045 missense variant A/G;T snv 4.0E-06; 4.0E-06 3
rs1171108843
CDCA5
0.925 0.040 11 65079421 stop lost T/C snv 2
rs199714029
FCN2
0.925 0.040 9 134886483 missense variant G/A snv 2