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rs397515327

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397515327(C;G)
Make rs397515327(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position119100785
GeneDPAGT1
is asnp
is mentioned by
dbSNPrs397515327
ebirs397515327
HLIrs397515327
Exacrs397515327
Varsomers397515327
Maprs397515327
PheGenIrs397515327
hapmaprs397515327
1000 genomesrs397515327
hgdprs397515327
ensemblrs397515327
gopubmedrs397515327
geneviewrs397515327
scholarrs397515327
googlers397515327
pharmgkbrs397515327
gwascentralrs397515327
openSNPrs397515327
23andMers397515327
23andMe allrs397515327
SNP Nexus

SNPshotrs397515327
SNPdbers397515327
MSV3drs397515327
GWAS Ctlgrs397515327
Max Magnitude0
ClinVar
Risk rs397515327(G,T;G,T)
Alt rs397515327(G,T;G,T)
Reference rs397515327(C;C)
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.118971495G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000055659.24,