rs869320701, DNAJB6

N. diseases: 8
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.
Abnormality of muscle fibers
CUI: C4021663
Disease: Abnormality of muscle fibers
2 0.925 0.080 7 157367408 missense variant T/A;G snv 0.700 0
Difficulty walking up stairs
CUI: C0239067
Disease: Difficulty walking up stairs
7 0.925 0.080 7 157367408 missense variant T/A;G snv 0.700 0
Fatty replacement of skeletal muscle
CUI: C4021082
Disease: Fatty replacement of skeletal muscle
4 0.925 0.080 7 157367408 missense variant T/A;G snv 0.700 0
Generalized muscle weakness
CUI: C0746674
Disease: Generalized muscle weakness
4 0.925 0.080 7 157367408 missense variant T/A;G snv 0.700 0
Increased variability in muscle fiber diameter
CUI: C1843700
Disease: Increased variability in muscle fiber diameter
4 0.925 0.080 7 157367408 missense variant T/A;G snv 0.700 0
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 1
CUI: C4721885
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 1
8 0.925 0.080 7 157367408 missense variant T/A;G snv 0.700 0
Myofibrillar Myopathy
CUI: C2678065
Disease: Myofibrillar Myopathy
24 0.925 0.080 7 157367408 missense variant T/A;G snv 0.700 0
Rimmed vacuoles on biopsy
CUI: C1853932
Disease: Rimmed vacuoles on biopsy
2 0.925 0.080 7 157367408 missense variant T/A;G snv 0.700 0