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rs121918255

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918255(C;C)
Make rs121918255(C;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position49435473
GeneMUT, TAX1BP1
is asnp
is mentioned by
dbSNPrs121918255
ebirs121918255
HLIrs121918255
Exacrs121918255
Varsomers121918255
Maprs121918255
PheGenIrs121918255
hapmaprs121918255
1000 genomesrs121918255
hgdprs121918255
ensemblrs121918255
gopubmedrs121918255
geneviewrs121918255
scholarrs121918255
googlers121918255
pharmgkbrs121918255
gwascentralrs121918255
openSNPrs121918255
23andMers121918255
23andMe allrs121918255
SNP Nexus

SNPshotrs121918255
SNPdbers121918255
MSV3drs121918255
GWAS Ctlgrs121918255
Max Magnitude0
OMIM609058
Desc
Variant0009
Relatedalso
ClinVar
Risk rs121918255(C;C)
Alt rs121918255(C;C)
Reference rs121918255(G;G)
Significance Pathogenic
Disease METHYLMALONIC ACIDURIA
Variation info
Gene MUT
CLNDBN METHYLMALONIC ACIDURIA, mut(0) TYPE
Reversed 1
HGVS NC_000006.11:g.49403186C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000001962.3,