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rs765427574

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs765427574(A;A)
Make rs765427574(A;G)
ReferenceGRCh38.p7 38.3/149
Chromosome11
Position22257753
GeneANO5
is asnp
is mentioned by
dbSNPrs765427574
dbSNP (classic)rs765427574
ClinGenrs765427574
ebirs765427574
HLIrs765427574
Exacrs765427574
Gnomadrs765427574
Varsomers765427574
LitVarrs765427574
Maprs765427574
PheGenIrs765427574
Biobankrs765427574
1000 genomesrs765427574
hgdprs765427574
ensemblrs765427574
geneviewrs765427574
scholarrs765427574
googlers765427574
pharmgkbrs765427574
gwascentralrs765427574
openSNPrs765427574
23andMers765427574
SNPshotrs765427574
SNPdbers765427574
MSV3drs765427574
GWAS Ctlgrs765427574
Max Magnitude0
ClinVar
Risk rs765427574(A;A)
Alt rs765427574(A;A)
Reference Rs765427574(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.22279299G>A
CLNSRC
CLNACC RCV000384851.1,