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rs587777672

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587777672(C;T)
Make rs587777672(T;T)
ReferenceGRCh38 38.1/142
Chromosome2
Position219484160
GeneSPEG
is asnp
is mentioned by
dbSNPrs587777672
ebirs587777672
HLIrs587777672
Exacrs587777672
Varsomers587777672
Maprs587777672
PheGenIrs587777672
hapmaprs587777672
1000 genomesrs587777672
hgdprs587777672
ensemblrs587777672
gopubmedrs587777672
geneviewrs587777672
scholarrs587777672
googlers587777672
pharmgkbrs587777672
gwascentralrs587777672
openSNPrs587777672
23andMers587777672
23andMe allrs587777672
SNP Nexus

SNPshotrs587777672
SNPdbers587777672
MSV3drs587777672
GWAS Ctlgrs587777672
Max Magnitude0
ClinVar
Risk rs587777672(A,G,T;A,G,T)
Alt rs587777672(A,G,T;A,G,T)
Reference rs587777672(C;C)
Significance Pathogenic
Disease Myopathy
Variation info
Gene SPEG
CLNDBN Myopathy, centronuclear, 5
Reversed 0
HGVS NC_000002.11:g.220348882C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000133589.3,