Rs121434387

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Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121434387(C;G)
Make rs121434387(G;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position69331067
GeneCOG8, PDF
is asnp
is mentioned by
dbSNPrs121434387
PheGenIrs121434387
nextbiors121434387
hapmaprs121434387
1000 genomesrs121434387
hgdprs121434387
ensemblrs121434387
gopubmedrs121434387
geneviewrs121434387
scholarrs121434387
googlers121434387
pharmgkbrs121434387
gwascentralrs121434387
openSNPrs121434387
23andMers121434387
23andMe allrs121434387
SNP Nexus

SNPshotrs121434387
SNPdbers121434387
MSV3drs121434387
Max Magnitude0
OMIM606979
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121434387(G;G)
Alt rs121434387(G;G)
Reference rs121434387(C;C)
Significance Pathogenic
Disease Congenital disorder of glycosylation type 2H
Variation info
Gene COG8 PDF
CLNDBN Congenital disorder of glycosylation type 2H
Reversed 1
HGVS NC_000016.9:g.69364970G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000003832.1,