rs794727475
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs794727475(G;T) |
Make rs794727475(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 11 |
Position | 108133902 |
Gene | ACAT1 |
is a | snp |
is | mentioned by |
dbSNP | rs794727475 |
dbSNP (classic) | rs794727475 |
ClinGen | rs794727475 |
ebi | rs794727475 |
HLI | rs794727475 |
Exac | rs794727475 |
Gnomad | rs794727475 |
Varsome | rs794727475 |
LitVar | rs794727475 |
Map | rs794727475 |
PheGenI | rs794727475 |
Biobank | rs794727475 |
1000 genomes | rs794727475 |
hgdp | rs794727475 |
ensembl | rs794727475 |
geneview | rs794727475 |
scholar | rs794727475 |
rs794727475 | |
pharmgkb | rs794727475 |
gwascentral | rs794727475 |
openSNP | rs794727475 |
23andMe | rs794727475 |
SNPshot | rs794727475 |
SNPdbe | rs794727475 |
MSV3d | rs794727475 |
GWAS Ctlg | rs794727475 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs794727475(T;T) |
Alt | rs794727475(T;T) |
Reference | Rs794727475(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.108004629G>T |
CLNSRC | |
CLNACC | RCV000176963.1, |