Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121908457
rs121908457
MYOT ; LOC101928005
0.882 0.120 5 137870815 missense variant C/T snv
CUI: C1836156
Disease: Progressive proximal muscle weakness
Progressive proximal muscle weakness 		0.700 0
dbSNP: rs1556880327
rs1556880327
DMD
X 31774182 frameshift variant -/T delins
CUI: C1836156
Disease: Progressive proximal muscle weakness
Progressive proximal muscle weakness 		0.700 0
dbSNP: rs549794342
rs549794342
NEB ; RIF1
0.925 0.120 2 151501423 stop gained G/A snv 2.7E-04 3.0E-04
CUI: C1836156
Disease: Progressive proximal muscle weakness
Progressive proximal muscle weakness 		0.700 0