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rs120074140

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs120074140(A;A)
Make rs120074140(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position108146334
GeneACAT1
is asnp
is mentioned by
dbSNPrs120074140
ebirs120074140
HLIrs120074140
Exacrs120074140
Varsomers120074140
Maprs120074140
PheGenIrs120074140
hapmaprs120074140
1000 genomesrs120074140
hgdprs120074140
ensemblrs120074140
gopubmedrs120074140
geneviewrs120074140
scholarrs120074140
googlers120074140
pharmgkbrs120074140
gwascentralrs120074140
openSNPrs120074140
23andMers120074140
23andMe allrs120074140
SNP Nexus

SNPshotrs120074140
SNPdbers120074140
MSV3drs120074140
GWAS Ctlgrs120074140
Max Magnitude0
OMIM607809
Desc
Variant0001
Relatedalso
ClinVar
Risk rs120074140(A;A)
Alt rs120074140(A;A)
Reference rs120074140(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.108017061G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002966.2,