rs879255505
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs879255505(C;T) |
Make rs879255505(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 11 |
Position | 108140138 |
Gene | ACAT1 |
is a | snp |
is | mentioned by |
dbSNP | rs879255505 |
dbSNP (classic) | rs879255505 |
ClinGen | rs879255505 |
ebi | rs879255505 |
HLI | rs879255505 |
Exac | rs879255505 |
Gnomad | rs879255505 |
Varsome | rs879255505 |
LitVar | rs879255505 |
Map | rs879255505 |
PheGenI | rs879255505 |
Biobank | rs879255505 |
1000 genomes | rs879255505 |
hgdp | rs879255505 |
ensembl | rs879255505 |
geneview | rs879255505 |
scholar | rs879255505 |
rs879255505 | |
pharmgkb | rs879255505 |
gwascentral | rs879255505 |
openSNP | rs879255505 |
23andMe | rs879255505 |
SNPshot | rs879255505 |
SNPdbe | rs879255505 |
MSV3d | rs879255505 |
GWAS Ctlg | rs879255505 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs879255505(T;T) |
Alt | rs879255505(T;T) |
Reference | Rs879255505(C;C) |
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.108010865C>T |
CLNSRC | |
CLNACC | RCV000239383.1, |