rs797044633
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(TAAG;TAAG) | 0 | common in clinvar |
Make rs797044633(AAA;AAA) |
Make rs797044633(AAA;TAAG) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 11 |
Position | 108146198 |
Gene | ACAT1 |
is a | snp |
is | mentioned by |
dbSNP | rs797044633 |
dbSNP (classic) | rs797044633 |
ClinGen | rs797044633 |
ebi | rs797044633 |
HLI | rs797044633 |
Exac | rs797044633 |
Gnomad | rs797044633 |
Varsome | rs797044633 |
LitVar | rs797044633 |
Map | rs797044633 |
PheGenI | rs797044633 |
Biobank | rs797044633 |
1000 genomes | rs797044633 |
hgdp | rs797044633 |
ensembl | rs797044633 |
geneview | rs797044633 |
scholar | rs797044633 |
rs797044633 | |
pharmgkb | rs797044633 |
gwascentral | rs797044633 |
openSNP | rs797044633 |
23andMe | rs797044633 |
SNPshot | rs797044633 |
SNPdbe | rs797044633 |
MSV3d | rs797044633 |
GWAS Ctlg | rs797044633 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797044633(AAA;AAA) |
Alt | rs797044633(AAA;AAA) |
Reference | Rs797044633(TAAG;TAAG) |
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.108016925_108016928delinsAAA |
CLNSRC | |
CLNACC | RCV000173953.1, |