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: rs757917335
rs757917335
DYSF
1.000 0.120 2 71611481 missense variant T/C snv 2.0E-05
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		0.800 1.000 8 1998 2017
dbSNP: rs757917335
rs757917335
DYSF
1.000 0.120 2 71611481 missense variant T/C snv 2.0E-05
CUI: C4021726
Disease: EMG: myopathic abnormalities
EMG: myopathic abnormalities 		0.700 0
dbSNP: rs757917335
rs757917335
DYSF
1.000 0.120 2 71611481 missense variant T/C snv 2.0E-05
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		0.700 0
dbSNP: rs757917335
rs757917335
DYSF
1.000 0.120 2 71611481 missense variant T/C snv 2.0E-05
CUI: C0221629
Disease: Proximal muscle weakness
Proximal muscle weakness 		0.700 0
dbSNP: rs757917335
rs757917335
DYSF
1.000 0.120 2 71611481 missense variant T/C snv 2.0E-05
CUI: C0239067
Disease: Difficulty walking up stairs
Difficulty walking up stairs 		0.700 0
dbSNP: rs757917335
rs757917335
DYSF
1.000 0.120 2 71611481 missense variant T/C snv 2.0E-05
CUI: C0560346
Disease: Difficulty running
Difficulty running 		0.700 0