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rs397515329

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397515329(C;C)
Make rs397515329(C;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position119100402
GeneDPAGT1, LOC107984397
is asnp
is mentioned by
dbSNPrs397515329
dbSNP (classic)rs397515329
ClinGenrs397515329
ebirs397515329
HLIrs397515329
Exacrs397515329
Gnomadrs397515329
Varsomers397515329
LitVarrs397515329
Maprs397515329
PheGenIrs397515329
Biobankrs397515329
1000 genomesrs397515329
hgdprs397515329
ensemblrs397515329
geneviewrs397515329
scholarrs397515329
googlers397515329
pharmgkbrs397515329
gwascentralrs397515329
openSNPrs397515329
23andMers397515329
SNPshotrs397515329
SNPdbers397515329
MSV3drs397515329
GWAS Ctlgrs397515329
Max Magnitude0
ClinVar
Risk rs397515329(C;C)
Alt rs397515329(C;C)
Reference Rs397515329(T;T)
Significance Pathogenic
Disease Congenital disorder of glycosylation type 1J
Variation info
Gene DPAGT1
CLNDBN Congenital disorder of glycosylation type 1J
Reversed 1
HGVS NC_000011.9:g.118971112A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000055661.26,