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rs398123096

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs398123096(C;C)
Make rs398123096(C;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position108140217
GeneACAT1
is asnp
is mentioned by
dbSNPrs398123096
ebirs398123096
HLIrs398123096
Exacrs398123096
Varsomers398123096
Maprs398123096
PheGenIrs398123096
hapmaprs398123096
1000 genomesrs398123096
hgdprs398123096
ensemblrs398123096
gopubmedrs398123096
geneviewrs398123096
scholarrs398123096
googlers398123096
pharmgkbrs398123096
gwascentralrs398123096
openSNPrs398123096
23andMers398123096
23andMe allrs398123096
SNP Nexus

SNPshotrs398123096
SNPdbers398123096
MSV3drs398123096
GWAS Ctlgrs398123096
Max Magnitude0
ClinVar
Risk rs398123096(C;C)
Alt rs398123096(C;C)
Reference rs398123096(T;T)
Significance Pathogenic
Disease not provided Deficiency of acetyl-CoA acetyltransferase
Variation info
Gene ACAT1
CLNDBN not provided Deficiency of acetyl-CoA acetyltransferase
Reversed 0
HGVS NC_000011.9:g.108010944T>C
CLNSRC ClinVar
CLNACC RCV000077932.3, RCV000179697.1,