rs4149338
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs4149338(C;T) |
Make rs4149338(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 9 |
Position | 104783622 |
Gene | ABCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs4149338 |
dbSNP (classic) | rs4149338 |
ClinGen | rs4149338 |
ebi | rs4149338 |
HLI | rs4149338 |
Exac | rs4149338 |
Gnomad | rs4149338 |
Varsome | rs4149338 |
LitVar | rs4149338 |
Map | rs4149338 |
PheGenI | rs4149338 |
Biobank | rs4149338 |
1000 genomes | rs4149338 |
hgdp | rs4149338 |
ensembl | rs4149338 |
geneview | rs4149338 |
scholar | rs4149338 |
rs4149338 | |
pharmgkb | rs4149338 |
gwascentral | rs4149338 |
openSNP | rs4149338 |
23andMe | rs4149338 |
SNPshot | rs4149338 |
SNPdbe | rs4149338 |
MSV3d | rs4149338 |
GWAS Ctlg | rs4149338 |
Max Magnitude | 0 |
? | (C;C) (C;T) (T;T) | 28 |
---|---|---|
|
[PMID 26722555] Association of ATP-binding cassette transporter A1 gene polymorphisms with plasma lipid variability and coronary heart disease risk.
ClinVar | |
---|---|
Risk | rs4149338(T;T) |
Alt | rs4149338(T;T) |
Reference | Rs4149338(C;C) |
Significance | Non-pathogenic |
Disease | Familial High Density Lipoprotein Deficiency Tangier disease |
Variation | info |
Gene | ABCA1 |
CLNDBN | Familial High Density Lipoprotein Deficiency Tangier disease |
Reversed | 1 |
HGVS | NC_000009.11:g.107545903G>A |
CLNSRC | |
CLNACC | RCV000286965.1, RCV000379060.1, |