rs571517554
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs571517554(C;T) |
| Make rs571517554(T;T) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 7 |
| Position | 2944528 |
| Gene | CARD11, LOC101927256 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs571517554 |
| dbSNP (classic) | rs571517554 |
| ClinGen | rs571517554 |
| ebi | rs571517554 |
| HLI | rs571517554 |
| Exac | rs571517554 |
| Gnomad | rs571517554 |
| Varsome | rs571517554 |
| LitVar | rs571517554 |
| Map | rs571517554 |
| PheGenI | rs571517554 |
| Biobank | rs571517554 |
| 1000 genomes | rs571517554 |
| hgdp | rs571517554 |
| ensembl | rs571517554 |
| geneview | rs571517554 |
| scholar | rs571517554 |
| rs571517554 | |
| pharmgkb | rs571517554 |
| gwascentral | rs571517554 |
| openSNP | rs571517554 |
| 23andMe | rs571517554 |
| SNPshot | rs571517554 |
| SNPdbe | rs571517554 |
| MSV3d | rs571517554 |
| GWAS Ctlg | rs571517554 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs571517554(T;T) |
| Alt | rs571517554(T;T) |
| Reference | Rs571517554(C;C) |
| Significance | Pathogenic |
| Disease | B-cell expansion with NFKB and T-cell anergy |
| Variation | info |
| Gene | CARD11 LOC101927256 |
| CLNDBN | B-cell expansion with NFKB and T-cell anergy |
| Reversed | 0 |
| HGVS | NC_000007.13:g.2984162C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000162028.4, |
