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rs398123097

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs398123097(-;-)
Make rs398123097(-;A)
ReferenceGRCh38 38.1/141
Chromosome11
Position108142515
GeneACAT1
is asnp
is mentioned by
dbSNPrs398123097
ebirs398123097
HLIrs398123097
Exacrs398123097
Varsomers398123097
Maprs398123097
PheGenIrs398123097
hapmaprs398123097
1000 genomesrs398123097
hgdprs398123097
ensemblrs398123097
gopubmedrs398123097
geneviewrs398123097
scholarrs398123097
googlers398123097
pharmgkbrs398123097
gwascentralrs398123097
openSNPrs398123097
23andMers398123097
23andMe allrs398123097
SNP Nexus

SNPshotrs398123097
SNPdbers398123097
MSV3drs398123097
GWAS Ctlgrs398123097
Max Magnitude0
ClinVar
Risk rs398123097(;)
Alt rs398123097(;)
Reference rs398123097(A;A)
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.108013242delA
CLNSRC ClinVar
CLNACC RCV000077934.3, RCV000180451.1,