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rs376663459

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs376663459(A;A)
Make rs376663459(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position70514350
GeneCOG4
is asnp
is mentioned by
dbSNPrs376663459
dbSNP (classic)rs376663459
ClinGenrs376663459
ebirs376663459
HLIrs376663459
Exacrs376663459
Gnomadrs376663459
Varsomers376663459
LitVarrs376663459
Maprs376663459
PheGenIrs376663459
Biobankrs376663459
1000 genomesrs376663459
hgdprs376663459
ensemblrs376663459
geneviewrs376663459
scholarrs376663459
googlers376663459
pharmgkbrs376663459
gwascentralrs376663459
openSNPrs376663459
23andMers376663459
SNPshotrs376663459
SNPdbers376663459
MSV3drs376663459
GWAS Ctlgrs376663459
Max Magnitude0
ClinVar
Risk rs376663459(A;A)
Alt rs376663459(A;A)
Reference Rs376663459(G;G)
Significance Probable-Pathogenic
Disease Congenital disorder of glycosylation type 2J
Variation info
Gene COG4
CLNDBN Congenital disorder of glycosylation type 2J
Reversed 0
HGVS NC_000016.9:g.70548253G>A
CLNSRC
CLNACC RCV000190572.1,