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rs762991875

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs762991875(C;C)
Make rs762991875(C;G)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position108138917
GeneACAT1
is asnp
is mentioned by
dbSNPrs762991875
ebirs762991875
HLIrs762991875
Exacrs762991875
Varsomers762991875
Maprs762991875
PheGenIrs762991875
hapmaprs762991875
1000 genomesrs762991875
hgdprs762991875
ensemblrs762991875
gopubmedrs762991875
geneviewrs762991875
scholarrs762991875
googlers762991875
pharmgkbrs762991875
gwascentralrs762991875
openSNPrs762991875
23andMers762991875
23andMe allrs762991875
SNP Nexus

SNPshotrs762991875
SNPdbers762991875
MSV3drs762991875
GWAS Ctlgrs762991875
Max Magnitude0
ClinVar
Risk rs762991875(C;C)
Alt rs762991875(C;C)
Reference rs762991875(G;G)
Significance Probable-Pathogenic
Disease Deficiency of acetyl-CoA acetyltransferase
Variation info
Gene ACAT1
CLNDBN Deficiency of acetyl-CoA acetyltransferase
Reversed 0
HGVS NC_000011.9:g.108009644G>C
CLNSRC
CLNACC RCV000179236.1,