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, |