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rs387907121

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs387907121(G;G)
Make rs387907121(G;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position89101274
GeneACSF3
is asnp
is mentioned by
dbSNPrs387907121
dbSNP (classic)rs387907121
ClinGenrs387907121
ebirs387907121
HLIrs387907121
Exacrs387907121
Gnomadrs387907121
Varsomers387907121
LitVarrs387907121
Maprs387907121
PheGenIrs387907121
Biobankrs387907121
1000 genomesrs387907121
hgdprs387907121
ensemblrs387907121
geneviewrs387907121
scholarrs387907121
googlers387907121
pharmgkbrs387907121
gwascentralrs387907121
openSNPrs387907121
23andMers387907121
SNPshotrs387907121
SNPdbers387907121
MSV3drs387907121
GWAS Ctlgrs387907121
Max Magnitude0
ClinVar
Risk rs387907121(A;A) rs387907121(G;G)
Alt rs387907121(A;A) rs387907121(G;G)
Reference Rs387907121(T;T)
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.89167682T>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000024137.3,