rs4252041
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs4252041(C;T) |
Make rs4252041(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 113133033 |
Gene | IL1RN |
is a | snp |
is | mentioned by |
dbSNP | rs4252041 |
dbSNP (classic) | rs4252041 |
ClinGen | rs4252041 |
ebi | rs4252041 |
HLI | rs4252041 |
Exac | rs4252041 |
Gnomad | rs4252041 |
Varsome | rs4252041 |
LitVar | rs4252041 |
Map | rs4252041 |
PheGenI | rs4252041 |
Biobank | rs4252041 |
1000 genomes | rs4252041 |
hgdp | rs4252041 |
ensembl | rs4252041 |
geneview | rs4252041 |
scholar | rs4252041 |
rs4252041 | |
pharmgkb | rs4252041 |
gwascentral | rs4252041 |
openSNP | rs4252041 |
23andMe | rs4252041 |
SNPshot | rs4252041 |
SNPdbe | rs4252041 |
MSV3d | rs4252041 |
GWAS Ctlg | rs4252041 |
GMAF | 0.01653 |
Max Magnitude | 0 |
? | (C;C) (C;T) (T;T) | 28 |
---|---|---|
|
[PMID 19290009] Variants of the interleukin-1 receptor antagonist gene are associated with fat mass in men
[PMID 19729864] Association of genetic variation in serum amyloid-A with cardiovascular disease and interactions with IL6, IL1RN, IL1beta and TNF genes in the Cardiovascular Health Study.
ClinVar | |
---|---|
Risk | rs4252041(T;T) |
Alt | rs4252041(T;T) |
Reference | Rs4252041(C;C) |
Significance | Probable-non-pathogenic |
Disease | Interleukin 1 receptor antagonist deficiency |
Variation | info |
Gene | IL1RN |
CLNDBN | Interleukin 1 receptor antagonist deficiency |
Reversed | 0 |
HGVS | NC_000002.11:g.113890610C>T |
CLNSRC | |
CLNACC | RCV000343482.1, |