Have questions? Visit https://www.reddit.com/r/SNPedia

rs727503795

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GG;GG) 0 common in clinvar
Make rs727503795(-;-)
Make rs727503795(-;GG)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position108138906
GeneACAT1
is asnp
is mentioned by
dbSNPrs727503795
dbSNP (classic)rs727503795
ClinGenrs727503795
ebirs727503795
HLIrs727503795
Exacrs727503795
Gnomadrs727503795
Varsomers727503795
LitVarrs727503795
Maprs727503795
PheGenIrs727503795
Biobankrs727503795
1000 genomesrs727503795
hgdprs727503795
ensemblrs727503795
geneviewrs727503795
scholarrs727503795
googlers727503795
pharmgkbrs727503795
gwascentralrs727503795
openSNPrs727503795
23andMers727503795
SNPshotrs727503795
SNPdbers727503795
MSV3drs727503795
GWAS Ctlgrs727503795
Max Magnitude0
ClinVar
Risk rs727503795(-;-)
Alt rs727503795(-;-)
Reference Rs727503795(GG;GG)
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.108009633_108009634delGG
CLNSRC
CLNACC RCV000152743.2, RCV000179238.1,