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rs587777298

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587777298(G;T)
Make rs587777298(T;T)
ReferenceGRCh38 38.1/142
Chromosome1
Position1050763
GeneAGRN
is asnp
is mentioned by
dbSNPrs587777298
dbSNP (classic)rs587777298
ClinGenrs587777298
ebirs587777298
HLIrs587777298
Exacrs587777298
Gnomadrs587777298
Varsomers587777298
LitVarrs587777298
Maprs587777298
PheGenIrs587777298
Biobankrs587777298
1000 genomesrs587777298
hgdprs587777298
ensemblrs587777298
geneviewrs587777298
scholarrs587777298
googlers587777298
pharmgkbrs587777298
gwascentralrs587777298
openSNPrs587777298
23andMers587777298
SNPshotrs587777298
SNPdbers587777298
MSV3drs587777298
GWAS Ctlgrs587777298
Max Magnitude0
ClinVar
Risk rs587777298(T;T)
Alt rs587777298(T;T)
Reference Rs587777298(G;G)
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.986143G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000114427.4, RCV000235038.1,