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rs387906282

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AAG;AAG) 0 common in clinvar
(GAA;GAA) 0 common in clinvar
Make rs387906282(-;-)
Make rs387906282(-;GAA)
ReferenceGRCh38 38.1/141
Chromosome11
Position108146229
GeneACAT1
is asnp
is mentioned by
dbSNPrs387906282
ebirs387906282
HLIrs387906282
Exacrs387906282
Varsomers387906282
Maprs387906282
PheGenIrs387906282
hapmaprs387906282
1000 genomesrs387906282
hgdprs387906282
ensemblrs387906282
gopubmedrs387906282
geneviewrs387906282
scholarrs387906282
googlers387906282
pharmgkbrs387906282
gwascentralrs387906282
openSNPrs387906282
23andMers387906282
23andMe allrs387906282
SNP Nexus

SNPshotrs387906282
SNPdbers387906282
MSV3drs387906282
GWAS Ctlgrs387906282
Max Magnitude0
ClinVar
Risk rs387906282(;)
Alt rs387906282(;)
Reference rs387906282(AAG;AAG)
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.108016956_108016958delGAA
CLNSRC OMIM Allelic Variant
CLNACC RCV000002975.2,