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rs397515321

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs397515321(-;-)
Make rs397515321(-;C)
Make rs397515321(C;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position119098431
GeneDPAGT1
is asnp
is mentioned by
dbSNPrs397515321
ebirs397515321
HLIrs397515321
Exacrs397515321
Varsomers397515321
Maprs397515321
PheGenIrs397515321
hapmaprs397515321
1000 genomesrs397515321
hgdprs397515321
ensemblrs397515321
gopubmedrs397515321
geneviewrs397515321
scholarrs397515321
googlers397515321
pharmgkbrs397515321
gwascentralrs397515321
openSNPrs397515321
23andMers397515321
23andMe allrs397515321
SNP Nexus

SNPshotrs397515321
SNPdbers397515321
MSV3drs397515321
GWAS Ctlgrs397515321
Max Magnitude0
ClinVar
Risk rs397515321(C;C)
Alt rs397515321(C;C)
Reference rs397515321(;)
Significance Pathogenic
Disease Congenital myasthenic syndrome 13
Variation info
Gene DPAGT1
CLNDBN Congenital myasthenic syndrome 13
Reversed 1
HGVS NC_000011.9:g.118969142dupG
CLNSRC OMIM Allelic Variant
CLNACC RCV000030603.25,