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rs886042556

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Chromosome11
Position22279622
GeneANO5
is asnp
is mentioned by
dbSNPrs886042556
dbSNP (classic)rs886042556
ClinGenrs886042556
ebirs886042556
HLIrs886042556
Exacrs886042556
Gnomadrs886042556
Varsomers886042556
LitVarrs886042556
Maprs886042556
PheGenIrs886042556
Biobankrs886042556
1000 genomesrs886042556
hgdprs886042556
ensemblrs886042556
geneviewrs886042556
scholarrs886042556
googlers886042556
pharmgkbrs886042556
gwascentralrs886042556
openSNPrs886042556
23andMers886042556
SNPshotrs886042556
SNPdbers886042556
MSV3drs886042556
GWAS Ctlgrs886042556
Max Magnitude0
ClinVar
Risk rs886042556(-;-)
Alt rs886042556(-;-)
Reference Rs886042556(A;A)
Significance Probable-Pathogenic
Disease Limb-girdle muscular dystrophy
Variation info
Gene ANO5
CLNDBN Limb-girdle muscular dystrophy, type 2L
Reversed 0
HGVS NC_000011.9:g.22301168delA
CLNSRC
CLNACC RCV000343001.1,