rs727503796
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs727503796(G;T) |
Make rs727503796(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 11 |
Position | 108141701 |
Gene | ACAT1 |
is a | snp |
is | mentioned by |
dbSNP | rs727503796 |
dbSNP (classic) | rs727503796 |
ClinGen | rs727503796 |
ebi | rs727503796 |
HLI | rs727503796 |
Exac | rs727503796 |
Gnomad | rs727503796 |
Varsome | rs727503796 |
LitVar | rs727503796 |
Map | rs727503796 |
PheGenI | rs727503796 |
Biobank | rs727503796 |
1000 genomes | rs727503796 |
hgdp | rs727503796 |
ensembl | rs727503796 |
geneview | rs727503796 |
scholar | rs727503796 |
rs727503796 | |
pharmgkb | rs727503796 |
gwascentral | rs727503796 |
openSNP | rs727503796 |
23andMe | rs727503796 |
SNPshot | rs727503796 |
SNPdbe | rs727503796 |
MSV3d | rs727503796 |
GWAS Ctlg | rs727503796 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs727503796(T;T) |
Alt | rs727503796(T;T) |
Reference | Rs727503796(G;G) |
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.108012428G>T |
CLNSRC | HGMD |
CLNACC | RCV000152744.2, RCV000180090.1, |