rs113994173
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs113994173(A;A) |
Make rs113994173(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 97733464 |
Gene | ZAP70 |
is a | snp |
is | mentioned by |
dbSNP | rs113994173 |
dbSNP (classic) | rs113994173 |
ClinGen | rs113994173 |
ebi | rs113994173 |
HLI | rs113994173 |
Exac | rs113994173 |
Gnomad | rs113994173 |
Varsome | rs113994173 |
LitVar | rs113994173 |
Map | rs113994173 |
PheGenI | rs113994173 |
Biobank | rs113994173 |
1000 genomes | rs113994173 |
hgdp | rs113994173 |
ensembl | rs113994173 |
geneview | rs113994173 |
scholar | rs113994173 |
rs113994173 | |
pharmgkb | rs113994173 |
gwascentral | rs113994173 |
openSNP | rs113994173 |
23andMe | rs113994173 |
SNPshot | rs113994173 |
SNPdbe | rs113994173 |
MSV3d | rs113994173 |
GWAS Ctlg | rs113994173 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs113994173(A;A) |
Alt | rs113994173(A;A) |
Reference | Rs113994173(G;G) |
Significance | Pathogenic |
Disease | Severe combined immunodeficiency |
Variation | info |
Gene | ZAP70 |
CLNDBN | Severe combined immunodeficiency, atypical |
Reversed | 0 |
HGVS | NC_000002.11:g.98349927G>A |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000033937.2, |