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rs587777673

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587777673(C;T)
Make rs587777673(T;T)
ReferenceGRCh38 38.1/142
Chromosome2
Position219473732
GeneSPEG
is asnp
is mentioned by
dbSNPrs587777673
ebirs587777673
HLIrs587777673
Exacrs587777673
Varsomers587777673
Maprs587777673
PheGenIrs587777673
hapmaprs587777673
1000 genomesrs587777673
hgdprs587777673
ensemblrs587777673
gopubmedrs587777673
geneviewrs587777673
scholarrs587777673
googlers587777673
pharmgkbrs587777673
gwascentralrs587777673
openSNPrs587777673
23andMers587777673
23andMe allrs587777673
SNP Nexus

SNPshotrs587777673
SNPdbers587777673
MSV3drs587777673
GWAS Ctlgrs587777673
Max Magnitude0
ClinVar
Risk rs587777673(T;T)
Alt rs587777673(T;T)
Reference rs587777673(C;C)
Significance Pathogenic
Disease Myopathy
Variation info
Gene SPEG
CLNDBN Myopathy, centronuclear, 5
Reversed 0
HGVS NC_000002.11:g.220338454C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000133590.4,