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rs397514586

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397514586(A;A)
Make rs397514586(A;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position119101094
GeneDPAGT1
is asnp
is mentioned by
dbSNPrs397514586
ebirs397514586
HLIrs397514586
Exacrs397514586
Varsomers397514586
Maprs397514586
PheGenIrs397514586
hapmaprs397514586
1000 genomesrs397514586
hgdprs397514586
ensemblrs397514586
gopubmedrs397514586
geneviewrs397514586
scholarrs397514586
googlers397514586
pharmgkbrs397514586
gwascentralrs397514586
openSNPrs397514586
23andMers397514586
23andMe allrs397514586
SNP Nexus

SNPshotrs397514586
SNPdbers397514586
MSV3drs397514586
GWAS Ctlgrs397514586
Max Magnitude0
ClinVar
Risk rs397514586(A;A)
Alt rs397514586(A;A)
Reference rs397514586(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.118971804A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000032992.24,