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rs864309738

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs864309738(C;C)
Make rs864309738(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position49447677
GeneMUT
is asnp
is mentioned by
dbSNPrs864309738
ebirs864309738
HLIrs864309738
Exacrs864309738
Varsomers864309738
Maprs864309738
PheGenIrs864309738
hapmaprs864309738
1000 genomesrs864309738
hgdprs864309738
ensemblrs864309738
gopubmedrs864309738
geneviewrs864309738
scholarrs864309738
googlers864309738
pharmgkbrs864309738
gwascentralrs864309738
openSNPrs864309738
23andMers864309738
23andMe allrs864309738
SNP Nexus

SNPshotrs864309738
SNPdbers864309738
MSV3drs864309738
GWAS Ctlgrs864309738
Max Magnitude0
ClinVar
Risk rs864309738(C;C)
Alt rs864309738(C;C)
Reference rs864309738(T;T)
Significance Pathogenic
Disease Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Variation info
Gene MUT
CLNDBN Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Reversed 1
HGVS NC_000006.11:g.49415390A>G
CLNSRC
CLNACC RCV000203325.1,