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rs587777676

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587777676(G;T)
Make rs587777676(T;T)
ReferenceGRCh38 38.1/142
Chromosome2
Position219489174
GeneSPEG
is asnp
is mentioned by
dbSNPrs587777676
ebirs587777676
HLIrs587777676
Exacrs587777676
Varsomers587777676
Maprs587777676
PheGenIrs587777676
hapmaprs587777676
1000 genomesrs587777676
hgdprs587777676
ensemblrs587777676
gopubmedrs587777676
geneviewrs587777676
scholarrs587777676
googlers587777676
pharmgkbrs587777676
gwascentralrs587777676
openSNPrs587777676
23andMers587777676
23andMe allrs587777676
SNP Nexus

SNPshotrs587777676
SNPdbers587777676
MSV3drs587777676
GWAS Ctlgrs587777676
Max Magnitude0
ClinVar
Risk rs587777676(T;T)
Alt rs587777676(T;T)
Reference rs587777676(G;G)
Significance Pathogenic
Disease Myopathy
Variation info
Gene SPEG
CLNDBN Myopathy, centronuclear, 5
Reversed 0
HGVS NC_000002.11:g.220353896G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000133593.5,