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rs121909292

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121909292(C;C)
Make rs121909292(C;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position74461835
GeneMOGS
is asnp
is mentioned by
dbSNPrs121909292
dbSNP (classic)rs121909292
ClinGenrs121909292
ebirs121909292
HLIrs121909292
Exacrs121909292
Gnomadrs121909292
Varsomers121909292
LitVarrs121909292
Maprs121909292
PheGenIrs121909292
Biobankrs121909292
1000 genomesrs121909292
hgdprs121909292
ensemblrs121909292
geneviewrs121909292
scholarrs121909292
googlers121909292
pharmgkbrs121909292
gwascentralrs121909292
openSNPrs121909292
23andMers121909292
SNPshotrs121909292
SNPdbers121909292
MSV3drs121909292
GWAS Ctlgrs121909292
Max Magnitude0
OMIM601336
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121909292(C;C)
Alt rs121909292(C;C)
Reference Rs121909292(T;T)
Significance Pathogenic
Disease Congenital disorder of glycosylation type 2B
Variation info
Gene MOGS
CLNDBN Congenital disorder of glycosylation type 2B
Reversed 1
HGVS NC_000002.11:g.74688962A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000008677.4,