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rs120074144

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs120074144(C;T)
Make rs120074144(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position108141688
GeneACAT1
is asnp
is mentioned by
dbSNPrs120074144
ebirs120074144
HLIrs120074144
Exacrs120074144
Varsomers120074144
Maprs120074144
PheGenIrs120074144
hapmaprs120074144
1000 genomesrs120074144
hgdprs120074144
ensemblrs120074144
gopubmedrs120074144
geneviewrs120074144
scholarrs120074144
googlers120074144
pharmgkbrs120074144
gwascentralrs120074144
openSNPrs120074144
23andMers120074144
23andMe allrs120074144
SNP Nexus

SNPshotrs120074144
SNPdbers120074144
MSV3drs120074144
GWAS Ctlgrs120074144
Max Magnitude0
OMIM607809
Desc
Variant0009
Relatedalso
ClinVar
Risk rs120074144(T;T)
Alt rs120074144(T;T)
Reference rs120074144(C;C)
Significance Pathogenic
Disease Deficiency of acetyl-CoA acetyltransferase not provided
Variation info
Gene ACAT1
CLNDBN Deficiency of acetyl-CoA acetyltransferase not provided
Reversed 0
HGVS NC_000011.9:g.108012415C>T
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000002974.4, RCV000077933.3,