rs4149339
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs4149339(C;T) |
Make rs4149339(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 9 |
Position | 104782875 |
Gene | ABCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs4149339 |
dbSNP (classic) | rs4149339 |
ClinGen | rs4149339 |
ebi | rs4149339 |
HLI | rs4149339 |
Exac | rs4149339 |
Gnomad | rs4149339 |
Varsome | rs4149339 |
LitVar | rs4149339 |
Map | rs4149339 |
PheGenI | rs4149339 |
Biobank | rs4149339 |
1000 genomes | rs4149339 |
hgdp | rs4149339 |
ensembl | rs4149339 |
geneview | rs4149339 |
scholar | rs4149339 |
rs4149339 | |
pharmgkb | rs4149339 |
gwascentral | rs4149339 |
openSNP | rs4149339 |
23andMe | rs4149339 |
SNPshot | rs4149339 |
SNPdbe | rs4149339 |
MSV3d | rs4149339 |
GWAS Ctlg | rs4149339 |
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 | rs4149339(T;T) |
Alt | rs4149339(T;T) |
Reference | Rs4149339(C;C) |
Significance | Non-pathogenic |
Disease | Tangier disease Familial High Density Lipoprotein Deficiency |
Variation | info |
Gene | ABCA1 |
CLNDBN | Tangier disease Familial High Density Lipoprotein Deficiency |
Reversed | 1 |
HGVS | NC_000009.11:g.107545156G>A |
CLNSRC | |
CLNACC | RCV000282474.1, RCV000394594.1, |