rs869025224
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs869025224(C;C) |
Make rs869025224(C;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 2 |
Position | 97734709 |
Gene | ZAP70 |
is a | snp |
is | mentioned by |
dbSNP | rs869025224 |
dbSNP (classic) | rs869025224 |
ClinGen | rs869025224 |
ebi | rs869025224 |
HLI | rs869025224 |
Exac | rs869025224 |
Gnomad | rs869025224 |
Varsome | rs869025224 |
LitVar | rs869025224 |
Map | rs869025224 |
PheGenI | rs869025224 |
Biobank | rs869025224 |
1000 genomes | rs869025224 |
hgdp | rs869025224 |
ensembl | rs869025224 |
geneview | rs869025224 |
scholar | rs869025224 |
rs869025224 | |
pharmgkb | rs869025224 |
gwascentral | rs869025224 |
openSNP | rs869025224 |
23andMe | rs869025224 |
SNPshot | rs869025224 |
SNPdbe | rs869025224 |
MSV3d | rs869025224 |
GWAS Ctlg | rs869025224 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs869025224(C;C) |
Alt | rs869025224(C;C) |
Reference | Rs869025224(G;G) |
Significance | Pathogenic |
Disease | Combined immunodeficiency Autoimmune disease |
Variation | info |
Gene | ZAP70 |
CLNDBN | Combined immunodeficiency Autoimmune disease, multisystem, infantile-onset, 2 |
Reversed | 0 |
HGVS | NC_000002.11:g.98351172G>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000208547.1, RCV000233631.2, |