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rs141090143

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs141090143(C;T)
Make rs141090143(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position89154148
GeneACSF3
is asnp
is mentioned by
dbSNPrs141090143
dbSNP (classic)rs141090143
ClinGenrs141090143
ebirs141090143
HLIrs141090143
Exacrs141090143
Gnomadrs141090143
Varsomers141090143
LitVarrs141090143
Maprs141090143
PheGenIrs141090143
Biobankrs141090143
1000 genomesrs141090143
hgdprs141090143
ensemblrs141090143
geneviewrs141090143
scholarrs141090143
googlers141090143
pharmgkbrs141090143
gwascentralrs141090143
openSNPrs141090143
23andMers141090143
SNPshotrs141090143
SNPdbers141090143
MSV3drs141090143
GWAS Ctlgrs141090143
GMAF0.001837
Max Magnitude0
ClinVar
Risk rs141090143(T;T)
Alt rs141090143(T;T)
Reference Rs141090143(C;C)
Significance Pathogenic
Disease Combined malonic and methylmalonic aciduria not provided
Variation info
Gene ACSF3
CLNDBN Combined malonic and methylmalonic aciduria not provided
Reversed 0
HGVS NC_000016.9:g.89220556C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000024130.3, RCV000185751.3,