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rs765262083

From SNPedia

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Geno Mag Summary
(C;C) 0 common in clinvar
Make rs765262083(C;T)
Make rs765262083(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position22262207
GeneANO5
is asnp
is mentioned by
dbSNPrs765262083
ebirs765262083
HLIrs765262083
Exacrs765262083
Varsomers765262083
Maprs765262083
PheGenIrs765262083
hapmaprs765262083
1000 genomesrs765262083
hgdprs765262083
ensemblrs765262083
gopubmedrs765262083
geneviewrs765262083
scholarrs765262083
googlers765262083
pharmgkbrs765262083
gwascentralrs765262083
openSNPrs765262083
23andMers765262083
23andMe allrs765262083
SNP Nexus

SNPshotrs765262083
SNPdbers765262083
MSV3drs765262083
GWAS Ctlgrs765262083
Max Magnitude0
ClinVar
Risk rs765262083(T;T)
Alt rs765262083(T;T)
Reference rs765262083(C;C)
Significance Pathogenic
Disease Limb-girdle muscular dystrophy Miyoshi muscular dystrophy 3
Variation info
Gene ANO5
CLNDBN Limb-girdle muscular dystrophy, type 2L Miyoshi muscular dystrophy 3
Reversed 0
HGVS NC_000011.9:g.22283753C>G
CLNSRC
CLNACC RCV000175113.1, RCV000175114.1,