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rs886043074

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Chromosome11
Position22250247
GeneANO5
is asnp
is mentioned by
dbSNPrs886043074
dbSNP (classic)rs886043074
ClinGenrs886043074
ebirs886043074
HLIrs886043074
Exacrs886043074
Gnomadrs886043074
Varsomers886043074
LitVarrs886043074
Maprs886043074
PheGenIrs886043074
Biobankrs886043074
1000 genomesrs886043074
hgdprs886043074
ensemblrs886043074
geneviewrs886043074
scholarrs886043074
googlers886043074
pharmgkbrs886043074
gwascentralrs886043074
openSNPrs886043074
23andMers886043074
SNPshotrs886043074
SNPdbers886043074
MSV3drs886043074
GWAS Ctlgrs886043074
Max Magnitude0
ClinVar
Risk rs886043074(T;T)
Alt rs886043074(T;T)
Reference Rs886043074(G;G)
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.22271793G>T
CLNSRC
CLNACC RCV000339995.1,