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rs120074147

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs120074147(C;C)
Make rs120074147(C;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position108144039
GeneACAT1
is asnp
is mentioned by
dbSNPrs120074147
ebirs120074147
HLIrs120074147
Exacrs120074147
Varsomers120074147
Maprs120074147
PheGenIrs120074147
hapmaprs120074147
1000 genomesrs120074147
hgdprs120074147
ensemblrs120074147
gopubmedrs120074147
geneviewrs120074147
scholarrs120074147
googlers120074147
pharmgkbrs120074147
gwascentralrs120074147
openSNPrs120074147
23andMers120074147
23andMe allrs120074147
SNP Nexus

SNPshotrs120074147
SNPdbers120074147
MSV3drs120074147
GWAS Ctlgrs120074147
Max Magnitude0
OMIM607809
Desc
Variant0014
Relatedalso
ClinVar
Risk rs120074147(C;C)
Alt rs120074147(C;C)
Reference rs120074147(G;G)
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.108014766G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000002979.4,