rs41297018
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs41297018(A;A) |
| Make rs41297018(A;G) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 10 |
| Position | 14935470 |
| Gene | DCLRE1C |
| is a | snp |
| is | mentioned by |
| dbSNP | rs41297018 |
| dbSNP (classic) | rs41297018 |
| ClinGen | rs41297018 |
| ebi | rs41297018 |
| HLI | rs41297018 |
| Exac | rs41297018 |
| Gnomad | rs41297018 |
| Varsome | rs41297018 |
| LitVar | rs41297018 |
| Map | rs41297018 |
| PheGenI | rs41297018 |
| Biobank | rs41297018 |
| 1000 genomes | rs41297018 |
| hgdp | rs41297018 |
| ensembl | rs41297018 |
| geneview | rs41297018 |
| scholar | rs41297018 |
| rs41297018 | |
| pharmgkb | rs41297018 |
| gwascentral | rs41297018 |
| openSNP | rs41297018 |
| 23andMe | rs41297018 |
| SNPshot | rs41297018 |
| SNPdbe | rs41297018 |
| MSV3d | rs41297018 |
| GWAS Ctlg | rs41297018 |
| GMAF | 0.009642 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs41297018(A;A) rs41297018(T;T) |
| Alt | rs41297018(A;A) rs41297018(T;T) |
| Reference | Rs41297018(G;G) |
| Significance | Probable-Pathogenic |
| Disease | Severe combined immunodeficiency disease not provided not specified |
| Variation | info |
| Gene | DCLRE1C |
| CLNDBN | Severe combined immunodeficiency disease not provided not specified |
| Reversed | 1 |
| HGVS | NC_000010.10:g.14977469C>T |
| CLNSRC | ClinVar LabCorp |
| CLNACC | RCV000029656.1, RCV000224125.1, RCV000455778.1, |
[PMID 18223550] Restoration of human B-cell differentiation into NOD-SCID mice engrafted with gene-corrected CD34+ cells isolated from Artemis or RAG1-deficient patients.
[PMID 19953608] The most frequent DCLRE1C (ARTEMIS) mutations are based on homologous recombination events.
