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rs794727745

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AGCAA;AGCAA) 0 common in clinvar
Make rs794727745(-;-)
Make rs794727745(-;CAAAG)
Make rs794727745(CAAAG;CAAAG)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position22221117
GeneANO5
is asnp
is mentioned by
dbSNPrs794727745
dbSNP (old)rs794727745
ClinGenrs794727745
ebirs794727745
HLIrs794727745
Exacrs794727745
Varsomers794727745
Maprs794727745
PheGenIrs794727745
Biobankrs794727745
1000 genomesrs794727745
hgdprs794727745
ensemblrs794727745
gopubmedrs794727745
geneviewrs794727745
scholarrs794727745
googlers794727745
pharmgkbrs794727745
gwascentralrs794727745
openSNPrs794727745
23andMers794727745
23andMe allrs794727745
SNP Nexus

SNPshotrs794727745
SNPdbers794727745
MSV3drs794727745
GWAS Ctlgrs794727745
Max Magnitude0
ClinVar
Risk rs794727745(-;-)
Alt rs794727745(-;-)
Reference Rs794727745(AGCAA;AGCAA)
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.22242663_22242667delCAAAG
CLNSRC
CLNACC RCV000179063.1,