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rs878854354

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs878854354(C;C)
Make rs878854354(C;G)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position151405024
GeneVMA21
is asnp
is mentioned by
dbSNPrs878854354
dbSNP (classic)rs878854354
ClinGenrs878854354
ebirs878854354
HLIrs878854354
Exacrs878854354
Gnomadrs878854354
Varsomers878854354
LitVarrs878854354
Maprs878854354
PheGenIrs878854354
Biobankrs878854354
1000 genomesrs878854354
hgdprs878854354
ensemblrs878854354
geneviewrs878854354
scholarrs878854354
googlers878854354
pharmgkbrs878854354
gwascentralrs878854354
openSNPrs878854354
23andMers878854354
SNPshotrs878854354
SNPdbers878854354
MSV3drs878854354
GWAS Ctlgrs878854354
Max Magnitude0
ClinVar
Risk rs878854354(C;C)
Alt rs878854354(C;C)
Reference Rs878854354(G;G)
Significance Pathogenic
Disease Myopathy
Variation info
Gene VMA21
CLNDBN Myopathy, X-linked, with excessive autophagy
Reversed 0
HGVS NC_000023.10:g.150573496G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000190830.3,