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rs121913582

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121913582(C;C)
Make rs121913582(C;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position236835586
GeneMTR
is asnp
is mentioned by
dbSNPrs121913582
dbSNP (classic)rs121913582
ClinGenrs121913582
ebirs121913582
HLIrs121913582
Exacrs121913582
Gnomadrs121913582
Varsomers121913582
LitVarrs121913582
Maprs121913582
PheGenIrs121913582
Biobankrs121913582
1000 genomesrs121913582
hgdprs121913582
ensemblrs121913582
geneviewrs121913582
scholarrs121913582
googlers121913582
pharmgkbrs121913582
gwascentralrs121913582
openSNPrs121913582
23andMers121913582
SNPshotrs121913582
SNPdbers121913582
MSV3drs121913582
GWAS Ctlgrs121913582
Max Magnitude0
OMIM156570
Desc
Variant0011
Relatedalso
ClinVar
Risk rs121913582(C;C)
Alt rs121913582(C;C)
Reference Rs121913582(G;G)
Significance Pathogenic
Disease METHYLCOBALAMIN DEFICIENCY
Variation info
Gene MTR
CLNDBN METHYLCOBALAMIN DEFICIENCY, cblG TYPE
Reversed 0
HGVS NC_000001.10:g.236998886G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000015358.27,