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rs387907244

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387907244(A;A)
Make rs387907244(A;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position119100768
GeneDPAGT1
is asnp
is mentioned by
dbSNPrs387907244
ebirs387907244
HLIrs387907244
Exacrs387907244
Varsomers387907244
Maprs387907244
PheGenIrs387907244
hapmaprs387907244
1000 genomesrs387907244
hgdprs387907244
ensemblrs387907244
gopubmedrs387907244
geneviewrs387907244
scholarrs387907244
googlers387907244
pharmgkbrs387907244
gwascentralrs387907244
openSNPrs387907244
23andMers387907244
23andMe allrs387907244
SNP Nexus

SNPshotrs387907244
SNPdbers387907244
MSV3drs387907244
GWAS Ctlgrs387907244
Max Magnitude0
ClinVar
Risk rs387907244(A;A)
Alt rs387907244(A;A)
Reference rs387907244(C;C)
Significance Pathogenic
Disease Congenital myasthenic syndrome 13
Variation info
Gene DPAGT1
CLNDBN Congenital myasthenic syndrome 13
Reversed 1
HGVS NC_000011.9:g.118971478G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000030604.26,