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rs140986055

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs140986055(C;T)
Make rs140986055(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position89102665
GeneACSF3
is asnp
is mentioned by
dbSNPrs140986055
ebirs140986055
HLIrs140986055
Exacrs140986055
Varsomers140986055
Maprs140986055
PheGenIrs140986055
hapmaprs140986055
1000 genomesrs140986055
hgdprs140986055
ensemblrs140986055
gopubmedrs140986055
geneviewrs140986055
scholarrs140986055
googlers140986055
pharmgkbrs140986055
gwascentralrs140986055
openSNPrs140986055
23andMers140986055
23andMe allrs140986055
SNP Nexus

SNPshotrs140986055
SNPdbers140986055
MSV3drs140986055
GWAS Ctlgrs140986055
GMAF0.0004591
Max Magnitude0
ClinVar
Risk rs140986055(T;T)
Alt rs140986055(T;T)
Reference rs140986055(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.89169073C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000024136.3,