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rs886041551

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AAGAA;AAGAA) 0 common in clinvar
Chromosome11
Position22225993
GeneANO5
is asnp
is mentioned by
dbSNPrs886041551
dbSNP (classic)rs886041551
ClinGenrs886041551
ebirs886041551
HLIrs886041551
Exacrs886041551
Gnomadrs886041551
Varsomers886041551
LitVarrs886041551
Maprs886041551
PheGenIrs886041551
Biobankrs886041551
1000 genomesrs886041551
hgdprs886041551
ensemblrs886041551
geneviewrs886041551
scholarrs886041551
googlers886041551
pharmgkbrs886041551
gwascentralrs886041551
openSNPrs886041551
23andMers886041551
SNPshotrs886041551
SNPdbers886041551
MSV3drs886041551
GWAS Ctlgrs886041551
Max Magnitude0
ClinVar
Risk rs886041551(-;-)
Alt rs886041551(-;-)
Reference Rs886041551(AAGAA;AAGAA)
Significance Pathogenic
Disease Limb-girdle muscular dystrophy not provided
Variation info
Gene ANO5
CLNDBN Limb-girdle muscular dystrophy, type 2L not provided
Reversed 0
HGVS NC_000011.9:g.22247539_22247543delAAAGA
CLNSRC
CLNACC RCV000323205.1, RCV000364776.1,