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rs797044444

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CT;CT) 0 common in clinvar
Make rs797044444(-;-)
Make rs797044444(-;TC)
Make rs797044444(TC;TC)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position236861195
GeneMTR
is asnp
is mentioned by
dbSNPrs797044444
dbSNP (classic)rs797044444
ClinGenrs797044444
ebirs797044444
HLIrs797044444
Exacrs797044444
Gnomadrs797044444
Varsomers797044444
LitVarrs797044444
Maprs797044444
PheGenIrs797044444
Biobankrs797044444
1000 genomesrs797044444
hgdprs797044444
ensemblrs797044444
geneviewrs797044444
scholarrs797044444
googlers797044444
pharmgkbrs797044444
gwascentralrs797044444
openSNPrs797044444
23andMers797044444
SNPshotrs797044444
SNPdbers797044444
MSV3drs797044444
GWAS Ctlgrs797044444
Max Magnitude0
ClinVar
Risk rs797044444(-;-)
Alt rs797044444(-;-)
Reference Rs797044444(CT;CT)
Significance Pathogenic
Disease METHYLCOBALAMIN DEFICIENCY
Variation info
Gene MTR
CLNDBN METHYLCOBALAMIN DEFICIENCY, cblG TYPE
Reversed 0
HGVS NC_000001.10:g.237024495_237024496delTC
CLNSRC OMIM Allelic Variant
CLNACC RCV000015352.27,