rs398123097
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs398123097(-;-) |
Make rs398123097(-;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 108142515 |
Gene | ACAT1 |
is a | snp |
is | mentioned by |
dbSNP | rs398123097 |
dbSNP (classic) | rs398123097 |
ClinGen | rs398123097 |
ebi | rs398123097 |
HLI | rs398123097 |
Exac | rs398123097 |
Gnomad | rs398123097 |
Varsome | rs398123097 |
LitVar | rs398123097 |
Map | rs398123097 |
PheGenI | rs398123097 |
Biobank | rs398123097 |
1000 genomes | rs398123097 |
hgdp | rs398123097 |
ensembl | rs398123097 |
geneview | rs398123097 |
scholar | rs398123097 |
rs398123097 | |
pharmgkb | rs398123097 |
gwascentral | rs398123097 |
openSNP | rs398123097 |
23andMe | rs398123097 |
SNPshot | rs398123097 |
SNPdbe | rs398123097 |
MSV3d | rs398123097 |
GWAS Ctlg | rs398123097 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398123097(-;-) |
Alt | rs398123097(-;-) |
Reference | Rs398123097(A;A) |
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.108013242delA |
CLNSRC | ClinVar |
CLNACC | RCV000077934.3, RCV000180451.1, |