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rs120074145

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs120074145(A;G)
Make rs120074145(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position108134260
GeneACAT1
is asnp
is mentioned by
dbSNPrs120074145
ebirs120074145
HLIrs120074145
Exacrs120074145
Varsomers120074145
Maprs120074145
PheGenIrs120074145
hapmaprs120074145
1000 genomesrs120074145
hgdprs120074145
ensemblrs120074145
gopubmedrs120074145
geneviewrs120074145
scholarrs120074145
googlers120074145
pharmgkbrs120074145
gwascentralrs120074145
openSNPrs120074145
23andMers120074145
23andMe allrs120074145
SNP Nexus

SNPshotrs120074145
SNPdbers120074145
MSV3drs120074145
GWAS Ctlgrs120074145
Max Magnitude0
OMIM607809
Desc
Variant0012
Relatedalso
ClinVar
Risk rs120074145(G;G)
Alt rs120074145(G;G)
Reference rs120074145(A;A)
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.108004987A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000002977.3,