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rs199524907

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs199524907(A;G)
Make rs199524907(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position108138935
GeneACAT1
is asnp
is mentioned by
dbSNPrs199524907
ebirs199524907
HLIrs199524907
Exacrs199524907
Varsomers199524907
Maprs199524907
PheGenIrs199524907
hapmaprs199524907
1000 genomesrs199524907
hgdprs199524907
ensemblrs199524907
gopubmedrs199524907
geneviewrs199524907
scholarrs199524907
googlers199524907
pharmgkbrs199524907
gwascentralrs199524907
openSNPrs199524907
23andMers199524907
23andMe allrs199524907
SNP Nexus

SNPshotrs199524907
SNPdbers199524907
MSV3drs199524907
GWAS Ctlgrs199524907
Max Magnitude0
ClinVar
Risk rs199524907(G;G)
Alt rs199524907(G;G)
Reference rs199524907(A;A)
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.108009662A>G
CLNSRC
CLNACC RCV000179237.1,