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rs869312946

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs869312946(A;A)
Make rs869312946(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome11
Position108141631
GeneACAT1
is asnp
is mentioned by
dbSNPrs869312946
dbSNP (classic)rs869312946
ClinGenrs869312946
ebirs869312946
HLIrs869312946
Exacrs869312946
Gnomadrs869312946
Varsomers869312946
LitVarrs869312946
Maprs869312946
PheGenIrs869312946
Biobankrs869312946
1000 genomesrs869312946
hgdprs869312946
ensemblrs869312946
geneviewrs869312946
scholarrs869312946
googlers869312946
pharmgkbrs869312946
gwascentralrs869312946
openSNPrs869312946
23andMers869312946
SNPshotrs869312946
SNPdbers869312946
MSV3drs869312946
GWAS Ctlgrs869312946
Max Magnitude0
ClinVar
Risk rs869312946(A;A)
Alt rs869312946(A;A)
Reference Rs869312946(G;G)
Significance Probable-Pathogenic
Disease Inborn genetic diseases
Variation info
Gene ACAT1
CLNDBN Inborn genetic diseases
Reversed 0
HGVS NC_000011.9:g.108012358G>A
CLNSRC
CLNACC RCV000210547.1,