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rs267606740

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267606740(C;T)
Make rs267606740(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position70481397
GeneCOG4
is asnp
is mentioned by
dbSNPrs267606740
ebirs267606740
HLIrs267606740
Exacrs267606740
Varsomers267606740
Maprs267606740
PheGenIrs267606740
hapmaprs267606740
1000 genomesrs267606740
hgdprs267606740
ensemblrs267606740
gopubmedrs267606740
geneviewrs267606740
scholarrs267606740
googlers267606740
pharmgkbrs267606740
gwascentralrs267606740
openSNPrs267606740
23andMers267606740
23andMe allrs267606740
SNP Nexus

SNPshotrs267606740
SNPdbers267606740
MSV3drs267606740
GWAS Ctlgrs267606740
Max Magnitude0
ClinVar
Risk rs267606740(T;T)
Alt rs267606740(T;T)
Reference rs267606740(C;C)
Significance Pathogenic
Disease Congenital disorder of glycosylation type 2J
Variation info
Gene COG4
CLNDBN Congenital disorder of glycosylation type 2J
Reversed 1
HGVS NC_000016.9:g.70515300G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003837.3,