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rs878854352

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs878854352(A;C)
Make rs878854352(C;C)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position151403604
GeneVMA21
is asnp
is mentioned by
dbSNPrs878854352
ebirs878854352
HLIrs878854352
Exacrs878854352
Varsomers878854352
Maprs878854352
PheGenIrs878854352
hapmaprs878854352
1000 genomesrs878854352
hgdprs878854352
ensemblrs878854352
gopubmedrs878854352
geneviewrs878854352
scholarrs878854352
googlers878854352
pharmgkbrs878854352
gwascentralrs878854352
openSNPrs878854352
23andMers878854352
23andMe allrs878854352
SNP Nexus

SNPshotrs878854352
SNPdbers878854352
MSV3drs878854352
GWAS Ctlgrs878854352
Max Magnitude0
ClinVar
Risk rs878854352(C,T;C,T)
Alt rs878854352(C,T;C,T)
Reference rs878854352(A;A)
Significance Pathogenic
Disease Myopathy
Variation info
Gene VMA21
CLNDBN Myopathy, X-linked, with excessive autophagy
Reversed 0
HGVS NC_000023.10:g.150572076A>C; NC_000023.10:g.150572076A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000190826.2, RCV000190827.2,