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rs387907118

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387907118(C;T)
Make rs387907118(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position89146003
GeneACSF3
is asnp
is mentioned by
dbSNPrs387907118
ebirs387907118
HLIrs387907118
Exacrs387907118
Varsomers387907118
Maprs387907118
PheGenIrs387907118
hapmaprs387907118
1000 genomesrs387907118
hgdprs387907118
ensemblrs387907118
gopubmedrs387907118
geneviewrs387907118
scholarrs387907118
googlers387907118
pharmgkbrs387907118
gwascentralrs387907118
openSNPrs387907118
23andMers387907118
23andMe allrs387907118
SNP Nexus

SNPshotrs387907118
SNPdbers387907118
MSV3drs387907118
GWAS Ctlgrs387907118
Max Magnitude0
ClinVar
Risk rs387907118(T;T)
Alt rs387907118(T;T)
Reference rs387907118(C;C)
Significance Pathogenic
Disease Combined malonic and methylmalonic aciduria
Variation info
Gene ACSF3
CLNDBN Combined malonic and methylmalonic aciduria
Reversed 0
HGVS NC_000016.9:g.89212411C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000024131.3,