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rs120074143

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs120074143(G;T)
Make rs120074143(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position108146332
GeneACAT1
is asnp
is mentioned by
dbSNPrs120074143
ebirs120074143
HLIrs120074143
Exacrs120074143
Varsomers120074143
Maprs120074143
PheGenIrs120074143
hapmaprs120074143
1000 genomesrs120074143
hgdprs120074143
ensemblrs120074143
gopubmedrs120074143
geneviewrs120074143
scholarrs120074143
googlers120074143
pharmgkbrs120074143
gwascentralrs120074143
openSNPrs120074143
23andMers120074143
23andMe allrs120074143
SNP Nexus

SNPshotrs120074143
SNPdbers120074143
MSV3drs120074143
GWAS Ctlgrs120074143
Max Magnitude0
OMIM607809
Desc
Variant0008
Relatedalso
ClinVar
Risk rs120074143(T;T)
Alt rs120074143(T;T)
Reference rs120074143(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.108017059G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002973.2,