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rs794727475

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794727475(G;T)
Make rs794727475(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position108133902
GeneACAT1
is asnp
is mentioned by
dbSNPrs794727475
ebirs794727475
HLIrs794727475
Exacrs794727475
Varsomers794727475
Maprs794727475
PheGenIrs794727475
hapmaprs794727475
1000 genomesrs794727475
hgdprs794727475
ensemblrs794727475
gopubmedrs794727475
geneviewrs794727475
scholarrs794727475
googlers794727475
pharmgkbrs794727475
gwascentralrs794727475
openSNPrs794727475
23andMers794727475
23andMe allrs794727475
SNP Nexus

SNPshotrs794727475
SNPdbers794727475
MSV3drs794727475
GWAS Ctlgrs794727475
Max Magnitude0
ClinVar
Risk rs794727475(T;T)
Alt rs794727475(T;T)
Reference rs794727475(G;G)
Significance Probable-Pathogenic
Disease Deficiency of acetyl-CoA acetyltransferase
Variation info
Gene ACAT1
CLNDBN Deficiency of acetyl-CoA acetyltransferase
Reversed 0
HGVS NC_000011.9:g.108004629G>T
CLNSRC
CLNACC RCV000176963.1,