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rs779565865

From SNPedia

Orientationplus
Stabilizedplus
Make rs779565865(-;-)
Make rs779565865(-;C)
Make rs779565865(C;C)
ReferenceGRCh38.p7 38.3/151
Chromosome11
Position108133848
GeneACAT1
is asnp
is mentioned by
dbSNPrs779565865
dbSNP (classic)rs779565865
ClinGenrs779565865
ebirs779565865
HLIrs779565865
Exacrs779565865
Gnomadrs779565865
Varsomers779565865
LitVarrs779565865
Maprs779565865
PheGenIrs779565865
Biobankrs779565865
1000 genomesrs779565865
hgdprs779565865
ensemblrs779565865
geneviewrs779565865
scholarrs779565865
googlers779565865
pharmgkbrs779565865
gwascentralrs779565865
openSNPrs779565865
23andMers779565865
SNPshotrs779565865
SNPdbers779565865
MSV3drs779565865
GWAS Ctlgrs779565865
Max Magnitude0

aka NM_000019.3(ACAT1):c.149delC or (p.Thr50Asnfs)

OMIM pathogenic variant