rs17860403
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs17860403(C;T) |
| Make rs17860403(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 201208114 |
| Gene | CASP10 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs17860403 |
| dbSNP (classic) | rs17860403 |
| ClinGen | rs17860403 |
| ebi | rs17860403 |
| HLI | rs17860403 |
| Exac | rs17860403 |
| Gnomad | rs17860403 |
| Varsome | rs17860403 |
| LitVar | rs17860403 |
| Map | rs17860403 |
| PheGenI | rs17860403 |
| Biobank | rs17860403 |
| 1000 genomes | rs17860403 |
| hgdp | rs17860403 |
| ensembl | rs17860403 |
| geneview | rs17860403 |
| scholar | rs17860403 |
| rs17860403 | |
| pharmgkb | rs17860403 |
| gwascentral | rs17860403 |
| openSNP | rs17860403 |
| 23andMe | rs17860403 |
| SNPshot | rs17860403 |
| SNPdbe | rs17860403 |
| MSV3d | rs17860403 |
| GWAS Ctlg | rs17860403 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs17860403(T;T) |
| Alt | rs17860403(T;T) |
| Reference | Rs17860403(C;C) |
| Significance | Pathogenic |
| Disease | Autoimmune lymphoproliferative syndrome |
| Variation | info |
| Gene | CASP10 |
| CLNDBN | Autoimmune lymphoproliferative syndrome, type 2 |
| Reversed | 0 |
| HGVS | NC_000002.11:g.202072837C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000008205.1, |
[PMID 10412980] Inherited human Caspase 10 mutations underlie defective lymphocyte and dendritic cell apoptosis in autoimmune lymphoproliferative syndrome type II.
