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rs794727395

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GT;GT) 0 common in clinvar
(I;I) 0 common genotype
(TG;TG) 0 common in clinvar
Make rs794727395(-;-)
Make rs794727395(-;TG)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position236880829
GeneMTR
is asnp
is mentioned by
dbSNPrs794727395
dbSNP (classic)rs794727395
ClinGenrs794727395
ebirs794727395
HLIrs794727395
Exacrs794727395
Gnomadrs794727395
Varsomers794727395
LitVarrs794727395
Maprs794727395
PheGenIrs794727395
Biobankrs794727395
1000 genomesrs794727395
hgdprs794727395
ensemblrs794727395
geneviewrs794727395
scholarrs794727395
googlers794727395
pharmgkbrs794727395
gwascentralrs794727395
openSNPrs794727395
23andMers794727395
SNPshotrs794727395
SNPdbers794727395
MSV3drs794727395
GWAS Ctlgrs794727395
Max Magnitude0
ClinVar
Risk rs794727395(-;-) Rs794727395(GT;GT)
Alt rs794727395(-;-) Rs794727395(GT;GT)
Reference Rs794727395(TG;TG)
Significance Pathogenic
Disease METHYLCOBALAMIN DEFICIENCY
Variation info
Gene MTR
CLNDBN METHYLCOBALAMIN DEFICIENCY, cblG TYPE
Reversed 0
HGVS NC_000001.10:g.237044129_237044130delTG
CLNSRC
CLNACC RCV000176521.1,