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rs138680796

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs138680796(C;T)
Make rs138680796(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position89145311
GeneACSF3
is asnp
is mentioned by
dbSNPrs138680796
ebirs138680796
HLIrs138680796
Exacrs138680796
Varsomers138680796
Maprs138680796
PheGenIrs138680796
hapmaprs138680796
1000 genomesrs138680796
hgdprs138680796
ensemblrs138680796
gopubmedrs138680796
geneviewrs138680796
scholarrs138680796
googlers138680796
pharmgkbrs138680796
gwascentralrs138680796
openSNPrs138680796
23andMers138680796
23andMe allrs138680796
SNP Nexus

SNPshotrs138680796
SNPdbers138680796
MSV3drs138680796
GWAS Ctlgrs138680796
Max Magnitude0
ClinVar
Risk rs138680796(T;T)
Alt rs138680796(T;T)
Reference rs138680796(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.89211719C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000024133.3,