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rs387907245

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs387907245(G;G)
Make rs387907245(G;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position119097981
GeneDPAGT1
is asnp
is mentioned by
dbSNPrs387907245
dbSNP (old)rs387907245
ClinGenrs387907245
ebirs387907245
HLIrs387907245
Exacrs387907245
Gnomadrs387907245
Varsomers387907245
Maprs387907245
PheGenIrs387907245
Biobankrs387907245
1000 genomesrs387907245
hgdprs387907245
ensemblrs387907245
gopubmedrs387907245
geneviewrs387907245
scholarrs387907245
googlers387907245
pharmgkbrs387907245
gwascentralrs387907245
openSNPrs387907245
23andMers387907245
23andMe allrs387907245
SNP Nexus

SNPshotrs387907245
SNPdbers387907245
MSV3drs387907245
GWAS Ctlgrs387907245
Max Magnitude0
ClinVar
Risk rs387907245(G;G)
Alt rs387907245(G;G)
Reference Rs387907245(T;T)
Significance Pathogenic
Disease Congenital myasthenic syndrome 13
Variation info
Gene DPAGT1
CLNDBN Congenital myasthenic syndrome 13
Reversed 1
HGVS NC_000011.9:g.118968691A>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000030605.24,