rs200296680
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs200296680(C;T) |
Make rs200296680(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 8 |
Position | 42316223 |
Gene | IKBKB |
is a | snp |
is | mentioned by |
dbSNP | rs200296680 |
dbSNP (classic) | rs200296680 |
ClinGen | rs200296680 |
ebi | rs200296680 |
HLI | rs200296680 |
Exac | rs200296680 |
Gnomad | rs200296680 |
Varsome | rs200296680 |
LitVar | rs200296680 |
Map | rs200296680 |
PheGenI | rs200296680 |
Biobank | rs200296680 |
1000 genomes | rs200296680 |
hgdp | rs200296680 |
ensembl | rs200296680 |
geneview | rs200296680 |
scholar | rs200296680 |
rs200296680 | |
pharmgkb | rs200296680 |
gwascentral | rs200296680 |
openSNP | rs200296680 |
23andMe | rs200296680 |
SNPshot | rs200296680 |
SNPdbe | rs200296680 |
MSV3d | rs200296680 |
GWAS Ctlg | rs200296680 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs200296680(T;T) |
Alt | rs200296680(T;T) |
Reference | Rs200296680(C;C) |
Significance | Pathogenic |
Disease | Immunodeficiency 15 |
Variation | info |
Gene | IKBKB |
CLNDBN | Immunodeficiency 15 |
Reversed | 0 |
HGVS | NC_000008.10:g.42173741C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000144958.4, |