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: rs1057518962
rs1057518962
DMD
X 32573812 stop gained C/A;G;T snv 5.5E-06; 5.5E-06
CUI: C0476403
Disease: Electromyogram abnormal
Electromyogram abnormal 		0.700 0
dbSNP: rs1057518962
rs1057518962
DMD
X 32573812 stop gained C/A;G;T snv 5.5E-06; 5.5E-06
CUI: C0037763
Disease: Spasm
Spasm 		0.700 0
dbSNP: rs1057518962
rs1057518962
DMD
X 32573812 stop gained C/A;G;T snv 5.5E-06; 5.5E-06
CUI: C1854301
Disease: Motor delay
Motor delay 		0.700 0
dbSNP: rs1057518962
rs1057518962
DMD
X 32573812 stop gained C/A;G;T snv 5.5E-06; 5.5E-06
CUI: C1843057
Disease: Calf muscle hypertrophy
Calf muscle hypertrophy 		0.700 0
dbSNP: rs1057518962
rs1057518962
DMD
X 32573812 stop gained C/A;G;T snv 5.5E-06; 5.5E-06
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		0.700 0
dbSNP: rs1057518962
rs1057518962
DMD
X 32573812 stop gained C/A;G;T snv 5.5E-06; 5.5E-06
CUI: C4021726
Disease: EMG: myopathic abnormalities
EMG: myopathic abnormalities 		0.700 0