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rs387906283

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs387906283(-;-)
Make rs387906283(-;A)
Make rs387906283(A;A)
ReferenceGRCh38 38.1/141
Chromosome11
Position108146279
GeneACAT1
is asnp
is mentioned by
dbSNPrs387906283
ebirs387906283
HLIrs387906283
Exacrs387906283
Varsomers387906283
Maprs387906283
PheGenIrs387906283
hapmaprs387906283
1000 genomesrs387906283
hgdprs387906283
ensemblrs387906283
gopubmedrs387906283
geneviewrs387906283
scholarrs387906283
googlers387906283
pharmgkbrs387906283
gwascentralrs387906283
openSNPrs387906283
23andMers387906283
23andMe allrs387906283
SNP Nexus

SNPshotrs387906283
SNPdbers387906283
MSV3drs387906283
GWAS Ctlgrs387906283
Max Magnitude0
ClinVar
Risk rs387906283(A;A)
Alt rs387906283(A;A)
Reference rs387906283(;)
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.108017006dupA
CLNSRC OMIM Allelic Variant
CLNACC RCV000002976.3,