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rs879255505

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs879255505(C;T)
Make rs879255505(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome11
Position108140138
GeneACAT1
is asnp
is mentioned by
dbSNPrs879255505
ebirs879255505
HLIrs879255505
Exacrs879255505
Varsomers879255505
Maprs879255505
PheGenIrs879255505
hapmaprs879255505
1000 genomesrs879255505
hgdprs879255505
ensemblrs879255505
gopubmedrs879255505
geneviewrs879255505
scholarrs879255505
googlers879255505
pharmgkbrs879255505
gwascentralrs879255505
openSNPrs879255505
23andMers879255505
23andMe allrs879255505
SNP Nexus

SNPshotrs879255505
SNPdbers879255505
MSV3drs879255505
GWAS Ctlgrs879255505
Max Magnitude0
ClinVar
Risk rs879255505(T;T)
Alt rs879255505(T;T)
Reference rs879255505(C;C)
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.108010865C>T
CLNSRC
CLNACC RCV000239383.1,