rs757917335, DYSF

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.
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
150 1.000 0.120 2 71611481 missense variant T/C snv 2.0E-05 0.800 1.000 21 1998 2017
Creatine phosphokinase serum increased
43 1.000 0.120 2 71611481 missense variant T/C snv 2.0E-05 0.700 0
Difficulty running
CUI: C0560346
Disease: Difficulty running
3 1.000 0.120 2 71611481 missense variant T/C snv 2.0E-05 0.700 0
Difficulty walking up stairs
CUI: C0239067
Disease: Difficulty walking up stairs
7 1.000 0.120 2 71611481 missense variant T/C snv 2.0E-05 0.700 0
EMG: myopathic abnormalities
CUI: C4021726
Disease: EMG: myopathic abnormalities
16 1.000 0.120 2 71611481 missense variant T/C snv 2.0E-05 0.700 0
Proximal muscle weakness
CUI: C0221629
Disease: Proximal muscle weakness
11 1.000 0.120 2 71611481 missense variant T/C snv 2.0E-05 0.700 0