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: rs1057518834
rs1057518834
DMD
X 32849737 frameshift variant GC/G in-del
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile
0.700 1 2015 2015
dbSNP: rs1057518834
rs1057518834
DMD
X 32849737 frameshift variant GC/G in-del
CUI: C1850830
Disease: Exercise-induced myalgia
Exercise-induced myalgia
0.700 1 2015 2015
dbSNP: rs1057518834
rs1057518834
DMD
X 32849737 frameshift variant GC/G in-del
CUI: C1855579
Disease: Exercise-induced muscle stiffness
Exercise-induced muscle stiffness
0.700 1 2015 2015
dbSNP: rs1057518834
rs1057518834
DMD
X 32849737 frameshift variant GC/G in-del
CUI: C1855578
Disease: Exercise-induced muscle cramps
Exercise-induced muscle cramps
0.700 1 2015 2015
dbSNP: rs1057518834
rs1057518834
DMD
X 32849737 frameshift variant GC/G in-del
CUI: C4021526
Disease: Exercise-induced rhabdomyolysis
Exercise-induced rhabdomyolysis
0.700 1 2015 2015
dbSNP: rs1057518834
rs1057518834
DMD
X 32849737 frameshift variant GC/G in-del
CUI: C4021726
Disease: EMG: myopathic abnormalities
EMG: myopathic abnormalities
0.700 1 2015 2015
dbSNP: rs1057518834
rs1057518834
DMD
X 32849737 frameshift variant GC/G in-del
CUI: C1855580
Disease: Exercise-induced muscle fatigue
Exercise-induced muscle fatigue
0.700 1 2015 2015
dbSNP: rs1057518834
rs1057518834
DMD
X 32849737 frameshift variant GC/G in-del
CUI: C0349588
Disease: Short stature
Short stature
0.700 1 2015 2015
dbSNP: rs1057518834
rs1057518834
DMD
X 32849737 frameshift variant GC/G in-del
CUI: C0026848
Disease: Myopathy
Myopathy
0.700 1 2015 2015