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rs387907120

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387907120(C;T)
Make rs387907120(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position89114434
GeneACSF3
is asnp
is mentioned by
dbSNPrs387907120
ebirs387907120
HLIrs387907120
Exacrs387907120
Varsomers387907120
Maprs387907120
PheGenIrs387907120
hapmaprs387907120
1000 genomesrs387907120
hgdprs387907120
ensemblrs387907120
gopubmedrs387907120
geneviewrs387907120
scholarrs387907120
googlers387907120
pharmgkbrs387907120
gwascentralrs387907120
openSNPrs387907120
23andMers387907120
23andMe allrs387907120
SNP Nexus

SNPshotrs387907120
SNPdbers387907120
MSV3drs387907120
GWAS Ctlgrs387907120
Max Magnitude0
ClinVar
Risk rs387907120(T;T)
Alt rs387907120(T;T)
Reference rs387907120(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.89180842C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000024135.3,