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rs120074148

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs120074148(C;G)
Make rs120074148(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position108135240
GeneACAT1
is asnp
is mentioned by
dbSNPrs120074148
ebirs120074148
HLIrs120074148
Exacrs120074148
Varsomers120074148
Maprs120074148
PheGenIrs120074148
hapmaprs120074148
1000 genomesrs120074148
hgdprs120074148
ensemblrs120074148
gopubmedrs120074148
geneviewrs120074148
scholarrs120074148
googlers120074148
pharmgkbrs120074148
gwascentralrs120074148
openSNPrs120074148
23andMers120074148
23andMe allrs120074148
SNP Nexus

SNPshotrs120074148
SNPdbers120074148
MSV3drs120074148
GWAS Ctlgrs120074148
GMAF0.0004591
Max Magnitude0
OMIM607809
Desc
Variant0015
Relatedalso
ClinVar
Risk rs120074148(G;G)
Alt rs120074148(G;G)
Reference rs120074148(C;C)
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.108005967C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000002980.4,