rs11086998
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in complete genomics |
| Make rs11086998(C;G) |
| Make rs11086998(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 20 |
| Position | 46128885 |
| Gene | CD40 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs11086998 |
| dbSNP (classic) | rs11086998 |
| ClinGen | rs11086998 |
| ebi | rs11086998 |
| HLI | rs11086998 |
| Exac | rs11086998 |
| Gnomad | rs11086998 |
| Varsome | rs11086998 |
| LitVar | rs11086998 |
| Map | rs11086998 |
| PheGenI | rs11086998 |
| Biobank | rs11086998 |
| 1000 genomes | rs11086998 |
| hgdp | rs11086998 |
| ensembl | rs11086998 |
| geneview | rs11086998 |
| scholar | rs11086998 |
| rs11086998 | |
| pharmgkb | rs11086998 |
| gwascentral | rs11086998 |
| openSNP | rs11086998 |
| 23andMe | rs11086998 |
| SNPshot | rs11086998 |
| SNPdbe | rs11086998 |
| MSV3d | rs11086998 |
| GWAS Ctlg | rs11086998 |
| GMAF | 0.02112 |
| Max Magnitude | 0 |
[PMID 18591382
] A novel polymorphism of the human CD40 receptor with enhanced function.
| ClinVar | |
|---|---|
| Risk | rs11086998(G;G) rs11086998(T;T) |
| Alt | rs11086998(G;G) rs11086998(T;T) |
| Reference | Rs11086998(C;C) |
| Significance | Probable-non-pathogenic |
| Disease | Immunodeficiency with Hyper-IgM not specified |
| Variation | info |
| Gene | CD40 |
| CLNDBN | Immunodeficiency with Hyper-IgM not specified |
| Reversed | 0 |
| HGVS | NC_000020.10:g.44757524C>G |
| CLNSRC | |
| CLNACC | RCV000264593.1, RCV000434147.1, |
[PMID 31183392] Analysis of Genetic Variation in CD40 and CD40L: Relationship with mRNA Relative Expression and Soluble Proteins in Acute Coronary Syndrome.
