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rs397514503

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397514503(A;G)
Make rs397514503(G;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position127937459
GeneDPM2
is asnp
is mentioned by
dbSNPrs397514503
ebirs397514503
HLIrs397514503
Exacrs397514503
Varsomers397514503
Maprs397514503
PheGenIrs397514503
hapmaprs397514503
1000 genomesrs397514503
hgdprs397514503
ensemblrs397514503
gopubmedrs397514503
geneviewrs397514503
scholarrs397514503
googlers397514503
pharmgkbrs397514503
gwascentralrs397514503
openSNPrs397514503
23andMers397514503
23andMe allrs397514503
SNP Nexus

SNPshotrs397514503
SNPdbers397514503
MSV3drs397514503
GWAS Ctlgrs397514503
Max Magnitude0
ClinVar
Risk rs397514503(G;G)
Alt rs397514503(G;G)
Reference rs397514503(A;A)
Significance Pathogenic
Disease Congenital disorder of glycosylation type 1u
Variation info
Gene DPM2
CLNDBN Congenital disorder of glycosylation type 1u
Reversed 1
HGVS NC_000009.11:g.130699738T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000032641.3,