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: rs121908457
rs121908457
MYOT ; LOC101928005
13 0.882 0.120 5 137870815 missense variant C/T snv 0.700 0
dbSNP: rs1556880327
rs1556880327
DMD
2 X 31774182 frameshift variant -/T delins 0.700 0
dbSNP: rs549794342
rs549794342
NEB ; RIF1
4 0.925 0.120 2 151501423 stop gained G/A snv 2.7E-04 3.0E-04 0.700 0