ANO5, anoctamin 5, 203859

N. diseases: 110; N. variants: 62
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder) ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs142073798
rs142073798 		1.000 0.120 11 22276177 missense variant T/A;G snv 1.2E-04; 8.0E-06
CUI: C1969785
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 4 2010 2015