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rs566415362

From SNPedia

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Geno Mag Summary
(C;C) 0 common in clinvar
Make rs566415362(C;G)
Make rs566415362(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position22255400
GeneANO5
is asnp
is mentioned by
dbSNPrs566415362
ebirs566415362
HLIrs566415362
Exacrs566415362
Varsomers566415362
Maprs566415362
PheGenIrs566415362
hapmaprs566415362
1000 genomesrs566415362
hgdprs566415362
ensemblrs566415362
gopubmedrs566415362
geneviewrs566415362
scholarrs566415362
googlers566415362
pharmgkbrs566415362
gwascentralrs566415362
openSNPrs566415362
23andMers566415362
23andMe allrs566415362
SNP Nexus

SNPshotrs566415362
SNPdbers566415362
MSV3drs566415362
GWAS Ctlgrs566415362
Max Magnitude0
ClinVar
Risk rs566415362(G,T;G,T)
Alt rs566415362(G,T;G,T)
Reference rs566415362(C;C)
Significance Pathogenic
Disease Limb-girdle muscular dystrophy
Variation info
Gene ANO5
CLNDBN Limb-girdle muscular dystrophy, type 2L
Reversed 0
HGVS NC_000011.9:g.22276946C>T
CLNSRC Quest Diagnostics
CLNACC RCV000201148.1,