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rs28934876

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(T;T) 0
Make rs28934876(A;G)
Make rs28934876(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position119100396
GeneDPAGT1
is asnp
is mentioned by
dbSNPrs28934876
ebirs28934876
HLIrs28934876
Exacrs28934876
Varsomers28934876
Maprs28934876
PheGenIrs28934876
hapmaprs28934876
1000 genomesrs28934876
hgdprs28934876
ensemblrs28934876
gopubmedrs28934876
geneviewrs28934876
scholarrs28934876
googlers28934876
pharmgkbrs28934876
gwascentralrs28934876
openSNPrs28934876
23andMers28934876
23andMe allrs28934876
SNP Nexus

SNPshotrs28934876
SNPdbers28934876
MSV3drs28934876
GWAS Ctlgrs28934876
Max Magnitude0
OMIM191350
DescCONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij
Variant0001
Relatedalso


ClinVar
Risk rs28934876(G;G)
Alt rs28934876(G;G)
Reference rs28934876(A;A)
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.118971106T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000013090.23,