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rs797044633

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TAAG;TAAG) 0 common in clinvar
Make rs797044633(AAA;AAA)
Make rs797044633(AAA;TAAG)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position108146198
GeneACAT1
is asnp
is mentioned by
dbSNPrs797044633
dbSNP (old)rs797044633
ClinGenrs797044633
ebirs797044633
HLIrs797044633
Exacrs797044633
Gnomadrs797044633
Varsomers797044633
Maprs797044633
PheGenIrs797044633
Biobankrs797044633
1000 genomesrs797044633
hgdprs797044633
ensemblrs797044633
gopubmedrs797044633
geneviewrs797044633
scholarrs797044633
googlers797044633
pharmgkbrs797044633
gwascentralrs797044633
openSNPrs797044633
23andMers797044633
23andMe allrs797044633
SNP Nexus

SNPshotrs797044633
SNPdbers797044633
MSV3drs797044633
GWAS Ctlgrs797044633
Max Magnitude0
ClinVar
Risk rs797044633(AAA;AAA)
Alt rs797044633(AAA;AAA)
Reference Rs797044633(TAAG;TAAG)
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.108016925_108016928delinsAAA
CLNSRC
CLNACC RCV000173953.1,