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rs120074142

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs120074142(A;A)
Make rs120074142(A;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position108121608
GeneACAT1
is asnp
is mentioned by
dbSNPrs120074142
ebirs120074142
HLIrs120074142
Exacrs120074142
Varsomers120074142
Maprs120074142
PheGenIrs120074142
hapmaprs120074142
1000 genomesrs120074142
hgdprs120074142
ensemblrs120074142
gopubmedrs120074142
geneviewrs120074142
scholarrs120074142
googlers120074142
pharmgkbrs120074142
gwascentralrs120074142
openSNPrs120074142
23andMers120074142
23andMe allrs120074142
SNP Nexus

SNPshotrs120074142
SNPdbers120074142
MSV3drs120074142
GWAS Ctlgrs120074142
Max Magnitude0
OMIM607809
Desc
Variant0007
Relatedalso
ClinVar
Risk rs120074142(A;A)
Alt rs120074142(A;A)
Reference rs120074142(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.107992335T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002972.3,