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rs879253788

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs879253788(-;C)
Make rs879253788(C;C)
ReferenceGRCh38.p2 38.2/147
Chromosome1
Position1042140
GeneAGRN
is asnp
is mentioned by
dbSNPrs879253788
dbSNP (classic)rs879253788
ClinGenrs879253788
ebirs879253788
HLIrs879253788
Exacrs879253788
Gnomadrs879253788
Varsomers879253788
LitVarrs879253788
Maprs879253788
PheGenIrs879253788
Biobankrs879253788
1000 genomesrs879253788
hgdprs879253788
ensemblrs879253788
geneviewrs879253788
scholarrs879253788
googlers879253788
pharmgkbrs879253788
gwascentralrs879253788
openSNPrs879253788
23andMers879253788
SNPshotrs879253788
SNPdbers879253788
MSV3drs879253788
GWAS Ctlgrs879253788
Max Magnitude0
ClinVar
Risk rs879253788(C;C)
Alt rs879253788(C;C)
Reference Rs879253788(-;-)
Significance Pathogenic
Disease Congenital myasthenic syndrome
Variation info
Gene AGRN
CLNDBN Congenital myasthenic syndrome
Reversed 0
HGVS NC_000001.10:g.977520dupC
CLNSRC
CLNACC RCV000235036.1,