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rs376039938

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs376039938(C;G)
Make rs376039938(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position119100802
GeneDPAGT1
is asnp
is mentioned by
dbSNPrs376039938
ebirs376039938
HLIrs376039938
Exacrs376039938
Varsomers376039938
Maprs376039938
PheGenIrs376039938
hapmaprs376039938
1000 genomesrs376039938
hgdprs376039938
ensemblrs376039938
gopubmedrs376039938
geneviewrs376039938
scholarrs376039938
googlers376039938
pharmgkbrs376039938
gwascentralrs376039938
openSNPrs376039938
23andMers376039938
23andMe allrs376039938
SNP Nexus

SNPshotrs376039938
SNPdbers376039938
MSV3drs376039938
GWAS Ctlgrs376039938
Max Magnitude0
ClinVar
Risk rs376039938(G;G)
Alt rs376039938(G;G)
Reference rs376039938(C;C)
Significance Pathogenic
Disease Congenital myasthenic syndrome 13
Variation info
Gene DPAGT1
CLNDBN Congenital myasthenic syndrome 13
Reversed 0
HGVS NC_000011.9:g.118971512C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000030602.26,