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rs120074141

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs120074141(A;A)
Make rs120074141(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position108139009
GeneACAT1
is asnp
is mentioned by
dbSNPrs120074141
ebirs120074141
HLIrs120074141
Exacrs120074141
Varsomers120074141
Maprs120074141
PheGenIrs120074141
hapmaprs120074141
1000 genomesrs120074141
hgdprs120074141
ensemblrs120074141
gopubmedrs120074141
geneviewrs120074141
scholarrs120074141
googlers120074141
pharmgkbrs120074141
gwascentralrs120074141
openSNPrs120074141
23andMers120074141
23andMe allrs120074141
SNP Nexus

SNPshotrs120074141
SNPdbers120074141
MSV3drs120074141
GWAS Ctlgrs120074141
Max Magnitude0
OMIM607809
Desc
Variant0002
Relatedalso
ClinVar
Risk rs120074141(A;A)
Alt rs120074141(A;A)
Reference rs120074141(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.108009736G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002967.2,