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rs199476396

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199476396(C;C)
Make rs199476396(C;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position1050575
GeneAGRN
is asnp
is mentioned by
dbSNPrs199476396
ebirs199476396
HLIrs199476396
Exacrs199476396
Varsomers199476396
Maprs199476396
PheGenIrs199476396
hapmaprs199476396
1000 genomesrs199476396
hgdprs199476396
ensemblrs199476396
gopubmedrs199476396
geneviewrs199476396
scholarrs199476396
googlers199476396
pharmgkbrs199476396
gwascentralrs199476396
openSNPrs199476396
23andMers199476396
23andMe allrs199476396
SNP Nexus

SNPshotrs199476396
SNPdbers199476396
MSV3drs199476396
GWAS Ctlgrs199476396
Max Magnitude0
ClinVar
Risk rs199476396(C;C)
Alt rs199476396(C;C)
Reference rs199476396(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.985955G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000019902.29, RCV000235029.1,