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rs878854357

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CTTTGTTTA;CTTTGTTTA) 0 common in clinvar
Make rs878854357(-;-)
Make rs878854357(-;GTTTACTTT)
Make rs878854357(GTTTACTTT;GTTTACTTT)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position151403615
GeneVMA21
is asnp
is mentioned by
dbSNPrs878854357
dbSNP (classic)rs878854357
ClinGenrs878854357
ebirs878854357
HLIrs878854357
Exacrs878854357
Gnomadrs878854357
Varsomers878854357
LitVarrs878854357
Maprs878854357
PheGenIrs878854357
Biobankrs878854357
1000 genomesrs878854357
hgdprs878854357
ensemblrs878854357
geneviewrs878854357
scholarrs878854357
googlers878854357
pharmgkbrs878854357
gwascentralrs878854357
openSNPrs878854357
23andMers878854357
SNPshotrs878854357
SNPdbers878854357
MSV3drs878854357
GWAS Ctlgrs878854357
Max Magnitude0
ClinVar
Risk rs878854357(-;-)
Alt rs878854357(-;-)
Reference Rs878854357(CTTTGTTTA;CTTTGTTTA)
Significance Pathogenic
Disease Myopathy
Variation info
Gene VMA21
CLNDBN Myopathy, X-linked, with excessive autophagy
Reversed 0
HGVS NC_000023.10:g.150572087_150572095delGTTTACTTT
CLNSRC OMIM Allelic Variant
CLNACC RCV000190834.2,