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rs387907202

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387907202(G;T)
Make rs387907202(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position70512280
GeneCOG4
is asnp
is mentioned by
dbSNPrs387907202
ebirs387907202
HLIrs387907202
Exacrs387907202
Varsomers387907202
Maprs387907202
PheGenIrs387907202
hapmaprs387907202
1000 genomesrs387907202
hgdprs387907202
ensemblrs387907202
gopubmedrs387907202
geneviewrs387907202
scholarrs387907202
googlers387907202
pharmgkbrs387907202
gwascentralrs387907202
openSNPrs387907202
23andMers387907202
23andMe allrs387907202
SNP Nexus

SNPshotrs387907202
SNPdbers387907202
MSV3drs387907202
GWAS Ctlgrs387907202
Max Magnitude0
ClinVar
Risk rs387907202(T;T)
Alt rs387907202(T;T)
Reference rs387907202(G;G)
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.70546183C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000024608.4,