rs1057518962, DMD

N. diseases: 6
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Calf muscle hypertrophy
CUI: C1843057
Disease: Calf muscle hypertrophy
5 X 32573812 stop gained C/A;G;T snv 5.5E-06; 5.5E-06 0.700 0
Electromyogram abnormal
CUI: C0476403
Disease: Electromyogram abnormal
12 X 32573812 stop gained C/A;G;T snv 5.5E-06; 5.5E-06 0.700 0
EMG: myopathic abnormalities
CUI: C4021726
Disease: EMG: myopathic abnormalities
16 X 32573812 stop gained C/A;G;T snv 5.5E-06; 5.5E-06 0.700 0
Motor delay
CUI: C1854301
Disease: Motor delay
34 X 32573812 stop gained C/A;G;T snv 5.5E-06; 5.5E-06 0.700 0
Muscle Weakness
CUI: C0151786
Disease: Muscle Weakness
87 X 32573812 stop gained C/A;G;T snv 5.5E-06; 5.5E-06 0.700 0
Spasm
CUI: C0037763
Disease: Spasm
9 X 32573812 stop gained C/A;G;T snv 5.5E-06; 5.5E-06 0.700 0