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, | 


