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rs868484837

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs868484837(-;-)
Make rs868484837(-;G)
ReferenceGRCh38.p7 38.3/149
Chromosome11
Position22218245
GeneANO5
is asnp
is mentioned by
dbSNPrs868484837
dbSNP (classic)rs868484837
ClinGenrs868484837
ebirs868484837
HLIrs868484837
Exacrs868484837
Gnomadrs868484837
Varsomers868484837
LitVarrs868484837
Maprs868484837
PheGenIrs868484837
Biobankrs868484837
1000 genomesrs868484837
hgdprs868484837
ensemblrs868484837
geneviewrs868484837
scholarrs868484837
googlers868484837
pharmgkbrs868484837
gwascentralrs868484837
openSNPrs868484837
23andMers868484837
SNPshotrs868484837
SNPdbers868484837
MSV3drs868484837
GWAS Ctlgrs868484837
Max Magnitude0
ClinVar
Risk rs868484837(-;-)
Alt rs868484837(-;-)
Reference Rs868484837(G;G)
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.22239791delG
CLNSRC
CLNACC RCV000344649.1, RCV000484000.1,