ANO5, anoctamin 5, 203859

N. diseases: 110; N. variants: 62
Disease: Osteogenesis imperfecta, Levin type ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs398124626
rs398124626
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C1833736
Disease:
Osteogenesis imperfecta, Levin type 		AT 0.700 CausalMutation CLINVAR Early-onset limb-girdle muscular dystrophy-2L in a female athlete. 27862037 2017