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rs587777675

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CC;CC) 0 common in clinvar
Make rs587777675(A;A)
Make rs587777675(A;CC)
ReferenceGRCh38 38.1/142
Chromosome2
Position219467207
GeneSPEG
is asnp
is mentioned by
dbSNPrs587777675
ebirs587777675
HLIrs587777675
Exacrs587777675
Varsomers587777675
Maprs587777675
PheGenIrs587777675
hapmaprs587777675
1000 genomesrs587777675
hgdprs587777675
ensemblrs587777675
gopubmedrs587777675
geneviewrs587777675
scholarrs587777675
googlers587777675
pharmgkbrs587777675
gwascentralrs587777675
openSNPrs587777675
23andMers587777675
23andMe allrs587777675
SNP Nexus

SNPshotrs587777675
SNPdbers587777675
MSV3drs587777675
GWAS Ctlgrs587777675
Max Magnitude0
ClinVar
Risk rs587777675(A;A)
Alt rs587777675(A;A)
Reference rs587777675(CC;CC)
Significance Pathogenic
Disease Myopathy
Variation info
Gene SPEG
CLNDBN Myopathy, centronuclear, 5
Reversed 0
HGVS NC_000002.11:g.220331929_220331930delCCinsA
CLNSRC OMIM Allelic Variant
CLNACC RCV000133592.3,