rs80358239
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs80358239(A;C) |
| Make rs80358239(C;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 201209363 |
| Gene | CASP10 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80358239 |
| dbSNP (classic) | rs80358239 |
| ClinGen | rs80358239 |
| ebi | rs80358239 |
| HLI | rs80358239 |
| Exac | rs80358239 |
| Gnomad | rs80358239 |
| Varsome | rs80358239 |
| LitVar | rs80358239 |
| Map | rs80358239 |
| PheGenI | rs80358239 |
| Biobank | rs80358239 |
| 1000 genomes | rs80358239 |
| hgdp | rs80358239 |
| ensembl | rs80358239 |
| geneview | rs80358239 |
| scholar | rs80358239 |
| rs80358239 | |
| pharmgkb | rs80358239 |
| gwascentral | rs80358239 |
| openSNP | rs80358239 |
| 23andMe | rs80358239 |
| SNPshot | rs80358239 |
| SNPdbe | rs80358239 |
| MSV3d | rs80358239 |
| GWAS Ctlg | rs80358239 |
| GMAF | 0.0009183 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs80358239(C;C) rs80358239(T;T) |
| Alt | rs80358239(C;C) rs80358239(T;T) |
| Reference | Rs80358239(A;A) |
| Significance | Other |
| Disease | Autoimmune lymphoproliferative syndrome Autoimmune lymphoproliferative syndrome not provided |
| Variation | info |
| Gene | CASP10 |
| CLNDBN | Autoimmune lymphoproliferative syndrome, type 2 Autoimmune lymphoproliferative syndrome not provided |
| Reversed | 0 |
| HGVS | NC_000002.11:g.202074086A>C; NC_000002.11:g.202074086A>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000008211.3, RCV000378446.1, RCV000440171.1, |
[PMID 10412980] Inherited human Caspase 10 mutations underlie defective lymphocyte and dendritic cell apoptosis in autoimmune lymphoproliferative syndrome type II.
[PMID 16446975] Genetic alterations in caspase-10 may be causative or protective in autoimmune lymphoproliferative syndrome.
