rs2228149
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs2228149(C;T) |
Make rs2228149(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 10 |
Position | 6021545 |
Gene | IL2RA |
is a | snp |
is | mentioned by |
dbSNP | rs2228149 |
dbSNP (classic) | rs2228149 |
ClinGen | rs2228149 |
ebi | rs2228149 |
HLI | rs2228149 |
Exac | rs2228149 |
Gnomad | rs2228149 |
Varsome | rs2228149 |
LitVar | rs2228149 |
Map | rs2228149 |
PheGenI | rs2228149 |
Biobank | rs2228149 |
1000 genomes | rs2228149 |
hgdp | rs2228149 |
ensembl | rs2228149 |
geneview | rs2228149 |
scholar | rs2228149 |
rs2228149 | |
pharmgkb | rs2228149 |
gwascentral | rs2228149 |
openSNP | rs2228149 |
23andMe | rs2228149 |
SNPshot | rs2228149 |
SNPdbe | rs2228149 |
MSV3d | rs2228149 |
GWAS Ctlg | rs2228149 |
GMAF | 0.06336 |
Max Magnitude | 0 |
[PMID 21239413] Association of IL2RA polymorphisms with susceptibility to multiple sclerosis is not explained by missense mutations in IL2RA
[PMID 16385451] A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
[PMID 18715339] Associations between cytokine/cytokine receptor single nucleotide polymorphisms and humoral immunity to measles, mumps and rubella in a Somali population.
ClinVar | |
---|---|
Risk | rs2228149(T;T) |
Alt | rs2228149(T;T) |
Reference | Rs2228149(C;C) |
Significance | Non-pathogenic |
Disease | Interleukin 2 receptor |
Variation | info |
Gene | IL2RA |
CLNDBN | Interleukin 2 receptor, alpha, deficiency of |
Reversed | 1 |
HGVS | NC_000010.10:g.6063508G>A |
CLNSRC | |
CLNACC | RCV000262595.1, |