rs368970223, ANO5

N. diseases: 3
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
CUI: C0026850
Disease: Muscular Dystrophy
67 0.882 0.160 11 22255403 stop gained C/T snv 1.6E-05 4.2E-05 0.700 1.000 1 2015 2015
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)
CUI: C1969785
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)
49 0.882 0.160 11 22255403 stop gained C/T snv 1.6E-05 4.2E-05 0.700 1.000 1 2015 2015
Osteogenesis imperfecta, Levin type
CUI: C1833736
Disease: Osteogenesis imperfecta, Levin type
28 0.882 0.160 11 22255403 stop gained C/T snv 1.6E-05 4.2E-05 0.700 1.000 1 2015 2015