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rs387907203

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs387907203(G;G)
Make rs387907203(G;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position70481062
GeneCOG4
is asnp
is mentioned by
dbSNPrs387907203
ebirs387907203
HLIrs387907203
Exacrs387907203
Varsomers387907203
Maprs387907203
PheGenIrs387907203
hapmaprs387907203
1000 genomesrs387907203
hgdprs387907203
ensemblrs387907203
gopubmedrs387907203
geneviewrs387907203
scholarrs387907203
googlers387907203
pharmgkbrs387907203
gwascentralrs387907203
openSNPrs387907203
23andMers387907203
23andMe allrs387907203
SNP Nexus

SNPshotrs387907203
SNPdbers387907203
MSV3drs387907203
GWAS Ctlgrs387907203
Max Magnitude0
ClinVar
Risk rs387907203(G;G)
Alt rs387907203(G;G)
Reference rs387907203(T;T)
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.70514965A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000024609.4,