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rs587776718

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs587776718(-;-)
Make rs587776718(-;T)
Make rs587776718(T;T)
ReferenceGRCh38 38.1/142
Chromosome12
Position40933764
GeneCNTN1
is asnp
is mentioned by
dbSNPrs587776718
ebirs587776718
HLIrs587776718
Exacrs587776718
Varsomers587776718
Maprs587776718
PheGenIrs587776718
hapmaprs587776718
1000 genomesrs587776718
hgdprs587776718
ensemblrs587776718
gopubmedrs587776718
geneviewrs587776718
scholarrs587776718
googlers587776718
pharmgkbrs587776718
gwascentralrs587776718
openSNPrs587776718
23andMers587776718
23andMe allrs587776718
SNP Nexus

SNPshotrs587776718
SNPdbers587776718
MSV3drs587776718
GWAS Ctlgrs587776718
Max Magnitude0
ClinVar
Risk rs587776718(T;T)
Alt rs587776718(T;T)
Reference rs587776718(;)
Significance Pathogenic
Disease Myopathy
Variation info
Gene CNTN1
CLNDBN Myopathy, congenital, compton-north
Reversed 0
HGVS NC_000012.11:g.41327566dupT
CLNSRC OMIM Allelic Variant
CLNACC RCV000010147.4,