rs387907351
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs387907351(A;G) |
Make rs387907351(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 2944495 |
Gene | CARD11, LOC101927256 |
is a | snp |
is | mentioned by |
dbSNP | rs387907351 |
dbSNP (classic) | rs387907351 |
ClinGen | rs387907351 |
ebi | rs387907351 |
HLI | rs387907351 |
Exac | rs387907351 |
Gnomad | rs387907351 |
Varsome | rs387907351 |
LitVar | rs387907351 |
Map | rs387907351 |
PheGenI | rs387907351 |
Biobank | rs387907351 |
1000 genomes | rs387907351 |
hgdp | rs387907351 |
ensembl | rs387907351 |
geneview | rs387907351 |
scholar | rs387907351 |
rs387907351 | |
pharmgkb | rs387907351 |
gwascentral | rs387907351 |
openSNP | rs387907351 |
23andMe | rs387907351 |
SNPshot | rs387907351 |
SNPdbe | rs387907351 |
MSV3d | rs387907351 |
GWAS Ctlg | rs387907351 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs387907351(G;G) |
Alt | rs387907351(G;G) |
Reference | Rs387907351(A;A) |
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 | 1 |
HGVS | NC_000007.13:g.2984129T>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000041968.4, |