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rs121913579

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121913579(C;G)
Make rs121913579(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position236885202
GeneMTR
is asnp
is mentioned by
dbSNPrs121913579
dbSNP (classic)rs121913579
ClinGenrs121913579
ebirs121913579
HLIrs121913579
Exacrs121913579
Gnomadrs121913579
Varsomers121913579
LitVarrs121913579
Maprs121913579
PheGenIrs121913579
Biobankrs121913579
1000 genomesrs121913579
hgdprs121913579
ensemblrs121913579
geneviewrs121913579
scholarrs121913579
googlers121913579
pharmgkbrs121913579
gwascentralrs121913579
openSNPrs121913579
23andMers121913579
SNPshotrs121913579
SNPdbers121913579
MSV3drs121913579
GWAS Ctlgrs121913579
Merged fromRs28933097
Max Magnitude0
OMIM156570
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121913579(G;G)
Alt rs121913579(G;G)
Reference Rs121913579(C;C)
Significance Pathogenic
Disease METHYLCOBALAMIN DEFICIENCY
Variation info
Gene MTR
CLNDBN METHYLCOBALAMIN DEFICIENCY, cblG TYPE
Reversed 0
HGVS NC_000001.10:g.237048502C>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000015350.27,