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rs28928906

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs28928906(A;A)
Make rs28928906(A;G)
ReferenceGRCh38 38.1/142
Chromosome15
Position74897050
GeneMPI
is asnp
is mentioned by
dbSNPrs28928906
dbSNP (classic)rs28928906
ClinGenrs28928906
ebirs28928906
HLIrs28928906
Exacrs28928906
Gnomadrs28928906
Varsomers28928906
LitVarrs28928906
Maprs28928906
PheGenIrs28928906
Biobankrs28928906
1000 genomesrs28928906
hgdprs28928906
ensemblrs28928906
geneviewrs28928906
scholarrs28928906
googlers28928906
pharmgkbrs28928906
gwascentralrs28928906
openSNPrs28928906
23andMers28928906
SNPshotrs28928906
SNPdbers28928906
MSV3drs28928906
GWAS Ctlgrs28928906
Max Magnitude0
OMIM154550
DescCONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib
Variant0005
Relatedalso


ClinVar
Risk rs28928906(A;A)
Alt rs28928906(A;A)
Reference Rs28928906(G;G)
Significance Pathogenic
Disease Congenital disorder of glycosylation type 1B
Variation info
Gene MPI
CLNDBN Congenital disorder of glycosylation type 1B
Reversed 0
HGVS NC_000015.9:g.75189391G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000015423.28,