rs199524907
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs199524907(A;G) |
Make rs199524907(G;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 11 |
Position | 108138935 |
Gene | ACAT1 |
is a | snp |
is | mentioned by |
dbSNP | rs199524907 |
dbSNP (classic) | rs199524907 |
ClinGen | rs199524907 |
ebi | rs199524907 |
HLI | rs199524907 |
Exac | rs199524907 |
Gnomad | rs199524907 |
Varsome | rs199524907 |
LitVar | rs199524907 |
Map | rs199524907 |
PheGenI | rs199524907 |
Biobank | rs199524907 |
1000 genomes | rs199524907 |
hgdp | rs199524907 |
ensembl | rs199524907 |
geneview | rs199524907 |
scholar | rs199524907 |
rs199524907 | |
pharmgkb | rs199524907 |
gwascentral | rs199524907 |
openSNP | rs199524907 |
23andMe | rs199524907 |
SNPshot | rs199524907 |
SNPdbe | rs199524907 |
MSV3d | rs199524907 |
GWAS Ctlg | rs199524907 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs199524907(G;G) |
Alt | rs199524907(G;G) |
Reference | Rs199524907(A;A) |
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.108009662A>G |
CLNSRC | |
CLNACC | RCV000179237.1, |