rs137854521, ANO5

N. diseases: 9
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 2L (disorder)
CUI: C1969785
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)
49 0.851 0.200 11 22221100 frameshift variant -/A delins 0.700 1.000 4 2010 2013
Osteogenesis imperfecta, Levin type
CUI: C1833736
Disease: Osteogenesis imperfecta, Levin type
28 0.851 0.200 11 22221100 frameshift variant -/A delins 0.700 1.000 4 2010 2013
Contracture of tendo achilles
CUI: C0410264
Disease: Contracture of tendo achilles
6 0.851 0.200 11 22221100 frameshift variant -/A delins 0.700 0
Creatine phosphokinase serum increased
CUI: C0241005
Disease: Creatine phosphokinase serum increased
43 0.851 0.200 11 22221100 frameshift variant -/A delins 0.700 0
Lower limb amyotrophy
CUI: C4024921
Disease: Lower limb amyotrophy
4 0.851 0.200 11 22221100 frameshift variant -/A delins 0.700 0
Miyoshi Muscular Dystrophy 3
CUI: C2750076
Disease: Miyoshi Muscular Dystrophy 3
8 0.851 0.200 11 22221100 frameshift variant -/A delins 0.700 0
Muscle Weakness Lower Limb
CUI: C1836296
Disease: Muscle Weakness Lower Limb
15 0.851 0.200 11 22221100 frameshift variant -/A delins 0.700 0
Myopathy
CUI: C0026848
Disease: Myopathy
166 0.851 0.200 11 22221100 frameshift variant -/A delins 0.700 0
Polycystic Kidney Diseases
CUI: C0022680
Disease: Polycystic Kidney Diseases
54 0.851 0.200 11 22221100 frameshift variant -/A delins 0.700 0