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rs794727231

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AGCTCAT;AGCTCAT) 0 common in clinvar
(TCATAGC;TCATAGC) 0 common in clinvar
Make rs794727231(-;-)
Make rs794727231(-;TCATAGC)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position22272926
GeneANO5
is asnp
is mentioned by
dbSNPrs794727231
dbSNP (old)rs794727231
ClinGenrs794727231
ebirs794727231
HLIrs794727231
Exacrs794727231
Gnomadrs794727231
Varsomers794727231
Maprs794727231
PheGenIrs794727231
Biobankrs794727231
1000 genomesrs794727231
hgdprs794727231
ensemblrs794727231
gopubmedrs794727231
geneviewrs794727231
scholarrs794727231
googlers794727231
pharmgkbrs794727231
gwascentralrs794727231
openSNPrs794727231
23andMers794727231
23andMe allrs794727231
SNP Nexus

SNPshotrs794727231
SNPdbers794727231
MSV3drs794727231
GWAS Ctlgrs794727231
Max Magnitude0
ClinVar
Risk rs794727231(-;-) Rs794727231(AGCTCAT;AGCTCAT)
Alt rs794727231(-;-) Rs794727231(AGCTCAT;AGCTCAT)
Reference Rs794727231(TCATAGC;TCATAGC)
Significance Pathogenic
Disease Miyoshi muscular dystrophy 3 Limb-girdle muscular dystrophy
Variation info
Gene ANO5
CLNDBN Miyoshi muscular dystrophy 3 Limb-girdle muscular dystrophy, type 2L
Reversed 0
HGVS NC_000011.9:g.22294472_22294478delTCATAGC
CLNSRC
CLNACC RCV000175500.1, RCV000175501.1,