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rs587777299

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587777299(C;T)
Make rs587777299(T;T)
ReferenceGRCh38 38.1/142
Chromosome1
Position1041582
GeneAGRN
is asnp
is mentioned by
dbSNPrs587777299
ebirs587777299
HLIrs587777299
Exacrs587777299
Varsomers587777299
Maprs587777299
PheGenIrs587777299
hapmaprs587777299
1000 genomesrs587777299
hgdprs587777299
ensemblrs587777299
gopubmedrs587777299
geneviewrs587777299
scholarrs587777299
googlers587777299
pharmgkbrs587777299
gwascentralrs587777299
openSNPrs587777299
23andMers587777299
23andMe allrs587777299
SNP Nexus

SNPshotrs587777299
SNPdbers587777299
MSV3drs587777299
GWAS Ctlgrs587777299
Max Magnitude0
ClinVar
Risk rs587777299(T;T)
Alt rs587777299(T;T)
Reference rs587777299(C;C)
Significance Pathogenic
Disease Myasthenic syndrome Congenital myasthenic syndrome
Variation info
Gene AGRN
CLNDBN Myasthenic syndrome, congenital, 8 Congenital myasthenic syndrome
Reversed 0
HGVS NC_000001.10:g.976962C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000114428.3, RCV000235030.1,