Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs143003434
rs143003434
SPAST
7 1.000 0.080 2 32098840 missense variant G/A snv 3.2E-05 3.5E-05 0.700 0
dbSNP: rs778768583
rs778768583
CAPN3
10 0.851 0.120 15 42410958 missense variant G/C snv 8.0E-06 0.700 0
dbSNP: rs886042108
rs886042108
CAPN3
10 0.851 0.120 15 42409930 splice acceptor variant G/C;T snv 0.700 0
dbSNP: rs886043676
rs886043676
DMD
3 X 31178766 frameshift variant G/- del 0.700 0