rs886039785, DMD

N. diseases: 7
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 0.925 0.120 X 31496876 stop gained C/T snv 0.700 0
Creatine phosphokinase serum increased
43 0.925 0.120 X 31496876 stop gained C/T snv 0.700 0
Frequent falls
CUI: C0850703
Disease: Frequent falls
4 0.925 0.120 X 31496876 stop gained C/T snv 0.700 0
Gowers sign
CUI: C0234182
Disease: Gowers sign
8 0.925 0.120 X 31496876 stop gained C/T snv 0.700 0
Muscle Weakness Lower Limb
CUI: C1836296
Disease: Muscle Weakness Lower Limb
15 0.925 0.120 X 31496876 stop gained C/T snv 0.700 0
Muscular Dystrophy
CUI: C0026850
Disease: Muscular Dystrophy
67 0.925 0.120 X 31496876 stop gained C/T snv 0.700 0
Muscular Dystrophy, Duchenne
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
170 0.925 0.120 X 31496876 stop gained C/T snv 0.700 0