rs120074142
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs120074142(A;A) |
Make rs120074142(A;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 108121608 |
Gene | ACAT1, LOC107984383 |
is a | snp |
is | mentioned by |
dbSNP | rs120074142 |
dbSNP (classic) | rs120074142 |
ClinGen | rs120074142 |
ebi | rs120074142 |
HLI | rs120074142 |
Exac | rs120074142 |
Gnomad | rs120074142 |
Varsome | rs120074142 |
LitVar | rs120074142 |
Map | rs120074142 |
PheGenI | rs120074142 |
Biobank | rs120074142 |
1000 genomes | rs120074142 |
hgdp | rs120074142 |
ensembl | rs120074142 |
geneview | rs120074142 |
scholar | rs120074142 |
rs120074142 | |
pharmgkb | rs120074142 |
gwascentral | rs120074142 |
openSNP | rs120074142 |
23andMe | rs120074142 |
SNPshot | rs120074142 |
SNPdbe | rs120074142 |
MSV3d | rs120074142 |
GWAS Ctlg | rs120074142 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs120074142(A;A) |
Alt | rs120074142(A;A) |
Reference | Rs120074142(T;T) |
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.107992335T>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000002972.3, |