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rs120074146

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs120074146(C;C)
Make rs120074146(C;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position108142545
GeneACAT1
is asnp
is mentioned by
dbSNPrs120074146
ebirs120074146
HLIrs120074146
Exacrs120074146
Varsomers120074146
Maprs120074146
PheGenIrs120074146
hapmaprs120074146
1000 genomesrs120074146
hgdprs120074146
ensemblrs120074146
gopubmedrs120074146
geneviewrs120074146
scholarrs120074146
googlers120074146
pharmgkbrs120074146
gwascentralrs120074146
openSNPrs120074146
23andMers120074146
23andMe allrs120074146
SNP Nexus

SNPshotrs120074146
SNPdbers120074146
MSV3drs120074146
GWAS Ctlgrs120074146
Max Magnitude0
OMIM607809
Desc
Variant0013
Relatedalso
ClinVar
Risk rs120074146(C;C)
Alt rs120074146(C;C)
Reference rs120074146(T;T)
Significance Pathogenic
Disease Deficiency of acetyl-CoA acetyltransferase
Variation info
Gene ACAT1
CLNDBN Deficiency of acetyl-CoA acetyltransferase
Reversed 0
HGVS NC_000011.9:g.108013272T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000002978.3,