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rs121918250

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918250(A;A)
Make rs121918250(A;C)
ReferenceGRCh38 38.1/141
Chromosome6
Position49451668
GeneMUT
is asnp
is mentioned by
dbSNPrs121918250
ebirs121918250
HLIrs121918250
Exacrs121918250
Varsomers121918250
Maprs121918250
PheGenIrs121918250
hapmaprs121918250
1000 genomesrs121918250
hgdprs121918250
ensemblrs121918250
gopubmedrs121918250
geneviewrs121918250
scholarrs121918250
googlers121918250
pharmgkbrs121918250
gwascentralrs121918250
openSNPrs121918250
23andMers121918250
23andMe allrs121918250
SNP Nexus

SNPshotrs121918250
SNPdbers121918250
MSV3drs121918250
GWAS Ctlgrs121918250
Max Magnitude0
OMIM609058
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121918250(A;A)
Alt rs121918250(A;A)
Reference rs121918250(C;C)
Significance Pathogenic
Disease METHYLMALONIC ACIDURIA
Variation info
Gene MUT
CLNDBN METHYLMALONIC ACIDURIA, mut(0) TYPE
Reversed 1
HGVS NC_000006.11:g.49419381G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001956.3,