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rs387906273

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387906273(C;T)
Make rs387906273(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position184248776
GeneALG3, ECE2
is asnp
is mentioned by
dbSNPrs387906273
ebirs387906273
HLIrs387906273
Exacrs387906273
Varsomers387906273
Maprs387906273
PheGenIrs387906273
hapmaprs387906273
1000 genomesrs387906273
hgdprs387906273
ensemblrs387906273
gopubmedrs387906273
geneviewrs387906273
scholarrs387906273
googlers387906273
pharmgkbrs387906273
gwascentralrs387906273
openSNPrs387906273
23andMers387906273
23andMe allrs387906273
SNP Nexus

SNPshotrs387906273
SNPdbers387906273
MSV3drs387906273
GWAS Ctlgrs387906273
Max Magnitude0
ClinVar
Risk rs387906273(T;T)
Alt rs387906273(T;T)
Reference rs387906273(C;C)
Significance Pathogenic
Disease Congenital disorder of glycosylation type 1D
Variation info
Gene ALG3 ECE2
CLNDBN Congenital disorder of glycosylation type 1D
Reversed 1
HGVS NC_000003.11:g.183966564G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002210.3,