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rs764160563

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs764160563(A;A)
Make rs764160563(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome1
Position1050473
GeneAGRN
is asnp
is mentioned by
dbSNPrs764160563
dbSNP (classic)rs764160563
ClinGenrs764160563
ebirs764160563
HLIrs764160563
Exacrs764160563
Gnomadrs764160563
Varsomers764160563
LitVarrs764160563
Maprs764160563
PheGenIrs764160563
Biobankrs764160563
1000 genomesrs764160563
hgdprs764160563
ensemblrs764160563
geneviewrs764160563
scholarrs764160563
googlers764160563
pharmgkbrs764160563
gwascentralrs764160563
openSNPrs764160563
23andMers764160563
SNPshotrs764160563
SNPdbers764160563
MSV3drs764160563
GWAS Ctlgrs764160563
Max Magnitude0
ClinVar
Risk rs764160563(A;A)
Alt rs764160563(A;A)
Reference Rs764160563(G;G)
Significance Pathogenic
Disease Congenital myasthenic syndrome
Variation info
Gene AGRN
CLNDBN Congenital myasthenic syndrome
Reversed 0
HGVS NC_000001.10:g.985853G>A
CLNSRC
CLNACC RCV000235025.1,