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rs566415362

From SNPedia

Orientationplus
Stabilizedplus
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
dbSNP (classic)rs566415362
ClinGenrs566415362
ebirs566415362
HLIrs566415362
Exacrs566415362
Gnomadrs566415362
Varsomers566415362
LitVarrs566415362
Maprs566415362
PheGenIrs566415362
Biobankrs566415362
1000 genomesrs566415362
hgdprs566415362
ensemblrs566415362
geneviewrs566415362
scholarrs566415362
googlers566415362
pharmgkbrs566415362
gwascentralrs566415362
openSNPrs566415362
23andMers566415362
SNPshotrs566415362
SNPdbers566415362
MSV3drs566415362
GWAS Ctlgrs566415362
Max Magnitude0
ClinVar
Risk rs566415362(G;G) rs566415362(T;T)
Alt rs566415362(G;G) rs566415362(T;T)
Reference Rs566415362(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.22276946C>T
CLNSRC Quest Diagnostics
CLNACC RCV000201148.2, RCV000396590.1,