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rs137854528

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CA;CA) 0 common in clinvar
Make rs137854528(-;-)
Make rs137854528(-;CA)
ReferenceGRCh38 38.1/141
Chromosome11
Position22274644
GeneANO5
is asnp
is mentioned by
dbSNPrs137854528
ebirs137854528
HLIrs137854528
Exacrs137854528
Varsomers137854528
Maprs137854528
PheGenIrs137854528
hapmaprs137854528
1000 genomesrs137854528
hgdprs137854528
ensemblrs137854528
gopubmedrs137854528
geneviewrs137854528
scholarrs137854528
googlers137854528
pharmgkbrs137854528
gwascentralrs137854528
openSNPrs137854528
23andMers137854528
23andMe allrs137854528
SNP Nexus

SNPshotrs137854528
SNPdbers137854528
MSV3drs137854528
GWAS Ctlgrs137854528
Max Magnitude0
ClinVar
Risk rs137854528(;)
Alt rs137854528(;)
Reference rs137854528(CA;CA)
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.22296190_22296191delCA
CLNSRC OMIM Allelic Variant
CLNACC RCV000032554.4, RCV000128779.1,