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rs121913580

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121913580(C;T)
Make rs121913580(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position236852578
GeneMTR
is asnp
is mentioned by
dbSNPrs121913580
dbSNP (classic)rs121913580
ClinGenrs121913580
ebirs121913580
HLIrs121913580
Exacrs121913580
Gnomadrs121913580
Varsomers121913580
LitVarrs121913580
Maprs121913580
PheGenIrs121913580
Biobankrs121913580
1000 genomesrs121913580
hgdprs121913580
ensemblrs121913580
geneviewrs121913580
scholarrs121913580
googlers121913580
pharmgkbrs121913580
gwascentralrs121913580
openSNPrs121913580
23andMers121913580
SNPshotrs121913580
SNPdbers121913580
MSV3drs121913580
GWAS Ctlgrs121913580
Max Magnitude0
OMIM156570
Desc
Variant0009
Relatedalso
ClinVar
Risk rs121913580(T;T)
Alt rs121913580(T;T)
Reference Rs121913580(C;C)
Significance Pathogenic
Disease METHYLCOBALAMIN DEFICIENCY
Variation info
Gene MTR
CLNDBN METHYLCOBALAMIN DEFICIENCY, cblG TYPE
Reversed 0
HGVS NC_000001.10:g.237015878C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000015356.27,