rs794729673
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs794729673(A;A) |
Make rs794729673(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 7 |
Position | 2947649 |
Gene | CARD11 |
is a | snp |
is | mentioned by |
dbSNP | rs794729673 |
dbSNP (classic) | rs794729673 |
ClinGen | rs794729673 |
ebi | rs794729673 |
HLI | rs794729673 |
Exac | rs794729673 |
Gnomad | rs794729673 |
Varsome | rs794729673 |
LitVar | rs794729673 |
Map | rs794729673 |
PheGenI | rs794729673 |
Biobank | rs794729673 |
1000 genomes | rs794729673 |
hgdp | rs794729673 |
ensembl | rs794729673 |
geneview | rs794729673 |
scholar | rs794729673 |
rs794729673 | |
pharmgkb | rs794729673 |
gwascentral | rs794729673 |
openSNP | rs794729673 |
23andMe | rs794729673 |
SNPshot | rs794729673 |
SNPdbe | rs794729673 |
MSV3d | rs794729673 |
GWAS Ctlg | rs794729673 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs794729673(A;A) |
Alt | rs794729673(A;A) |
Reference | Rs794729673(G;G) |
Significance | Pathogenic |
Disease | B-cell expansion with NFKB and T-cell anergy |
Variation | info |
Gene | CARD11 |
CLNDBN | B-cell expansion with NFKB and T-cell anergy |
Reversed | 1 |
HGVS | NC_000007.13:g.2987283C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000185616.2, |