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rs387907243

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387907243(A;A)
Make rs387907243(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position119100777
GeneDPAGT1
is asnp
is mentioned by
dbSNPrs387907243
ebirs387907243
HLIrs387907243
Exacrs387907243
Varsomers387907243
Maprs387907243
PheGenIrs387907243
hapmaprs387907243
1000 genomesrs387907243
hgdprs387907243
ensemblrs387907243
gopubmedrs387907243
geneviewrs387907243
scholarrs387907243
googlers387907243
pharmgkbrs387907243
gwascentralrs387907243
openSNPrs387907243
23andMers387907243
23andMe allrs387907243
SNP Nexus

SNPshotrs387907243
SNPdbers387907243
MSV3drs387907243
GWAS Ctlgrs387907243
Max Magnitude0
ClinVar
Risk rs387907243(A,T;A,T)
Alt rs387907243(A,T;A,T)
Reference rs387907243(G;G)
Significance Pathogenic
Disease Congenital myasthenic syndrome 13
Variation info
Gene DPAGT1
CLNDBN Congenital myasthenic syndrome 13
Reversed 1
HGVS NC_000011.9:g.118971487C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000030601.25,