rs397514686
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs397514686(C;T) |
Make rs397514686(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 2915243 |
Gene | CARD11 |
is a | snp |
is | mentioned by |
dbSNP | rs397514686 |
dbSNP (classic) | rs397514686 |
ClinGen | rs397514686 |
ebi | rs397514686 |
HLI | rs397514686 |
Exac | rs397514686 |
Gnomad | rs397514686 |
Varsome | rs397514686 |
LitVar | rs397514686 |
Map | rs397514686 |
PheGenI | rs397514686 |
Biobank | rs397514686 |
1000 genomes | rs397514686 |
hgdp | rs397514686 |
ensembl | rs397514686 |
geneview | rs397514686 |
scholar | rs397514686 |
rs397514686 | |
pharmgkb | rs397514686 |
gwascentral | rs397514686 |
openSNP | rs397514686 |
23andMe | rs397514686 |
SNPshot | rs397514686 |
SNPdbe | rs397514686 |
MSV3d | rs397514686 |
GWAS Ctlg | rs397514686 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397514686(T;T) |
Alt | rs397514686(T;T) |
Reference | Rs397514686(C;C) |
Significance | Pathogenic |
Disease | Immunodeficiency 11 |
Variation | info |
Gene | CARD11 |
CLNDBN | Immunodeficiency 11 |
Reversed | 1 |
HGVS | NC_000007.13:g.2954877G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000041970.4, |