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rs878854379

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs878854379(C;T)
Make rs878854379(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome2
Position237344754
GeneCOL6A3
is asnp
is mentioned by
dbSNPrs878854379
ebirs878854379
HLIrs878854379
Exacrs878854379
Varsomers878854379
Maprs878854379
PheGenIrs878854379
hapmaprs878854379
1000 genomesrs878854379
hgdprs878854379
ensemblrs878854379
gopubmedrs878854379
geneviewrs878854379
scholarrs878854379
googlers878854379
pharmgkbrs878854379
gwascentralrs878854379
openSNPrs878854379
23andMers878854379
23andMe allrs878854379
SNP Nexus

SNPshotrs878854379
SNPdbers878854379
MSV3drs878854379
GWAS Ctlgrs878854379
Max Magnitude0
ClinVar
Risk rs878854379(T;T)
Alt rs878854379(T;T)
Reference rs878854379(C;C)
Significance Probable-Pathogenic
Disease Bethlem myopathy
Variation info
Gene COL6A3
CLNDBN Bethlem myopathy
Reversed 1
HGVS NC_000002.11:g.238253397G>A
CLNSRC
CLNACC RCV000232617.1,