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rs148639841

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs148639841(A;G)
Make rs148639841(G;G)
ReferenceGRCh38 38.1/142
Chromosome11
Position108138934
GeneACAT1
is asnp
is mentioned by
dbSNPrs148639841
ebirs148639841
HLIrs148639841
Exacrs148639841
Varsomers148639841
Maprs148639841
PheGenIrs148639841
hapmaprs148639841
1000 genomesrs148639841
hgdprs148639841
ensemblrs148639841
gopubmedrs148639841
geneviewrs148639841
scholarrs148639841
googlers148639841
pharmgkbrs148639841
gwascentralrs148639841
openSNPrs148639841
23andMers148639841
23andMe allrs148639841
SNP Nexus

SNPshotrs148639841
SNPdbers148639841
MSV3drs148639841
GWAS Ctlgrs148639841
Max Magnitude0
ClinVar
Risk rs148639841(G;G)
Alt rs148639841(G;G)
Reference rs148639841(A;A)
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.108009661A>G
CLNSRC HGMD
CLNACC RCV000077931.3, RCV000179235.1,