rs137853201
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs137853201(A;A) |
Make rs137853201(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 97737577 |
Gene | ZAP70 |
is a | snp |
is | mentioned by |
dbSNP | rs137853201 |
dbSNP (classic) | rs137853201 |
ClinGen | rs137853201 |
ebi | rs137853201 |
HLI | rs137853201 |
Exac | rs137853201 |
Gnomad | rs137853201 |
Varsome | rs137853201 |
LitVar | rs137853201 |
Map | rs137853201 |
PheGenI | rs137853201 |
Biobank | rs137853201 |
1000 genomes | rs137853201 |
hgdp | rs137853201 |
ensembl | rs137853201 |
geneview | rs137853201 |
scholar | rs137853201 |
rs137853201 | |
pharmgkb | rs137853201 |
gwascentral | rs137853201 |
openSNP | rs137853201 |
23andMe | rs137853201 |
SNPshot | rs137853201 |
SNPdbe | rs137853201 |
MSV3d | rs137853201 |
GWAS Ctlg | rs137853201 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs137853201(A;A) |
Alt | rs137853201(A;A) |
Reference | Rs137853201(G;G) |
Significance | Pathogenic |
Disease | Severe combined immunodeficiency |
Variation | info |
Gene | ZAP70 |
CLNDBN | Severe combined immunodeficiency, atypical |
Reversed | 0 |
HGVS | NC_000002.11:g.98354040G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000033214.27, |