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rs727503796

From SNPedia

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Geno Mag Summary
(G;G) 0 common in clinvar
Make rs727503796(G;T)
Make rs727503796(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position108141701
GeneACAT1
is asnp
is mentioned by
dbSNPrs727503796
ebirs727503796
HLIrs727503796
Exacrs727503796
Varsomers727503796
Maprs727503796
PheGenIrs727503796
hapmaprs727503796
1000 genomesrs727503796
hgdprs727503796
ensemblrs727503796
gopubmedrs727503796
geneviewrs727503796
scholarrs727503796
googlers727503796
pharmgkbrs727503796
gwascentralrs727503796
openSNPrs727503796
23andMers727503796
23andMe allrs727503796
SNP Nexus

SNPshotrs727503796
SNPdbers727503796
MSV3drs727503796
GWAS Ctlgrs727503796
Max Magnitude0
ClinVar
Risk rs727503796(T;T)
Alt rs727503796(T;T)
Reference rs727503796(G;G)
Significance Pathogenic
Disease not provided Deficiency of acetyl-CoA acetyltransferase
Variation info
Gene ACAT1
CLNDBN not provided Deficiency of acetyl-CoA acetyltransferase
Reversed 0
HGVS NC_000011.9:g.108012428G>T
CLNSRC HGMD
CLNACC RCV000152744.2, RCV000180090.1,