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rs387906277

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387906277(-;-)
Make rs387906277(-;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position78121130
GeneALG8
is asnp
is mentioned by
dbSNPrs387906277
dbSNP (classic)rs387906277
ClinGenrs387906277
ebirs387906277
HLIrs387906277
Exacrs387906277
Gnomadrs387906277
Varsomers387906277
LitVarrs387906277
Maprs387906277
PheGenIrs387906277
Biobankrs387906277
1000 genomesrs387906277
hgdprs387906277
ensemblrs387906277
geneviewrs387906277
scholarrs387906277
googlers387906277
pharmgkbrs387906277
gwascentralrs387906277
openSNPrs387906277
23andMers387906277
SNPshotrs387906277
SNPdbers387906277
MSV3drs387906277
GWAS Ctlgrs387906277
Max Magnitude0
ClinVar
Risk rs387906277(-;-)
Alt rs387906277(-;-)
Reference Rs387906277(C;C)
Significance Pathogenic
Disease Congenital disorder of glycosylation type 1H
Variation info
Gene ALG8
CLNDBN Congenital disorder of glycosylation type 1H
Reversed 1
HGVS NC_000011.9:g.77832176delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000002667.3,