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rs797044443

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AAT;AAT) 0 common in clinvar
(TAA;TAA) 0 common in clinvar
Make rs797044443(-;-)
Make rs797044443(-;AAT)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position236880800
GeneMTR
is asnp
is mentioned by
dbSNPrs797044443
dbSNP (old)rs797044443
ClinGenrs797044443
ebirs797044443
HLIrs797044443
Exacrs797044443
Gnomadrs797044443
Varsomers797044443
Maprs797044443
PheGenIrs797044443
Biobankrs797044443
1000 genomesrs797044443
hgdprs797044443
ensemblrs797044443
gopubmedrs797044443
geneviewrs797044443
scholarrs797044443
googlers797044443
pharmgkbrs797044443
gwascentralrs797044443
openSNPrs797044443
23andMers797044443
23andMe allrs797044443
SNP Nexus

SNPshotrs797044443
SNPdbers797044443
MSV3drs797044443
GWAS Ctlgrs797044443
Max Magnitude0
ClinVar
Risk rs797044443(-;-) Rs797044443(TAA;TAA)
Alt rs797044443(-;-) Rs797044443(TAA;TAA)
Reference Rs797044443(AAT;AAT)
Significance Pathogenic
Disease METHYLCOBALAMIN DEFICIENCY
Variation info
Gene MTR
CLNDBN METHYLCOBALAMIN DEFICIENCY, cblG TYPE
Reversed 0
HGVS NC_000001.10:g.237044100_237044102delAAT
CLNSRC OMIM Allelic Variant
CLNACC RCV000015349.28,