rs137854523, ANO5

N. diseases: 4
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 0.240 11 22236206 missense variant G/T snv 1.0E-03 9.6E-04 0.800 1.000 8 2010 2015
Hereditary fructose intolerance syndrome
CUI: C0016751
Disease: Hereditary fructose intolerance syndrome
47 0.851 0.240 11 22236206 missense variant G/T snv 1.0E-03 9.6E-04 0.700 1.000 7 2010 2015
Osteogenesis imperfecta, Levin type
CUI: C1833736
Disease: Osteogenesis imperfecta, Levin type
28 0.851 0.240 11 22236206 missense variant G/T snv 1.0E-03 9.6E-04 0.700 1.000 6 2010 2015
Miyoshi Muscular Dystrophy 3
CUI: C2750076
Disease: Miyoshi Muscular Dystrophy 3
8 0.851 0.240 11 22236206 missense variant G/T snv 1.0E-03 9.6E-04 0.700 0