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rs397515322

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397515322(A;A)
Make rs397515322(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position119101490
GeneDPAGT1, LOC107984397
is asnp
is mentioned by
dbSNPrs397515322
dbSNP (classic)rs397515322
ClinGenrs397515322
ebirs397515322
HLIrs397515322
Exacrs397515322
Gnomadrs397515322
Varsomers397515322
LitVarrs397515322
Maprs397515322
PheGenIrs397515322
Biobankrs397515322
1000 genomesrs397515322
hgdprs397515322
ensemblrs397515322
geneviewrs397515322
scholarrs397515322
googlers397515322
pharmgkbrs397515322
gwascentralrs397515322
openSNPrs397515322
23andMers397515322
SNPshotrs397515322
SNPdbers397515322
MSV3drs397515322
GWAS Ctlgrs397515322
Max Magnitude0
ClinVar
Risk rs397515322(A;A)
Alt rs397515322(A;A)
Reference Rs397515322(G;G)
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.118972200C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000032993.24,