rs35691292
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs35691292(C;T) |
| Make rs35691292(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 36593525 |
| Gene | C11orf74, RAG2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs35691292 |
| dbSNP (classic) | rs35691292 |
| ClinGen | rs35691292 |
| ebi | rs35691292 |
| HLI | rs35691292 |
| Exac | rs35691292 |
| Gnomad | rs35691292 |
| Varsome | rs35691292 |
| LitVar | rs35691292 |
| Map | rs35691292 |
| PheGenI | rs35691292 |
| Biobank | rs35691292 |
| 1000 genomes | rs35691292 |
| hgdp | rs35691292 |
| ensembl | rs35691292 |
| geneview | rs35691292 |
| scholar | rs35691292 |
| rs35691292 | |
| pharmgkb | rs35691292 |
| gwascentral | rs35691292 |
| openSNP | rs35691292 |
| 23andMe | rs35691292 |
| SNPshot | rs35691292 |
| SNPdbe | rs35691292 |
| MSV3d | rs35691292 |
| GWAS Ctlg | rs35691292 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) | |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | rs35691292(A;A) rs35691292(T;T) |
| Alt | rs35691292(A;A) rs35691292(T;T) |
| Reference | Rs35691292(C;C) |
| Significance | Pathogenic |
| Disease | Severe combined immunodeficiency not specified |
| Variation | info |
| Gene | RAG2 C11orf74 |
| CLNDBN | Severe combined immunodeficiency, B cell-negative not specified |
| Reversed | 1 |
| HGVS | NC_000011.9:g.36615075G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000014016.24, RCV000433357.1, |
