rs28929498
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs28929498(A;T) |
| Make rs28929498(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 10 |
| Position | 89014221 |
| Gene | FAS |
| is a | snp |
| is | mentioned by |
| dbSNP | rs28929498 |
| dbSNP (classic) | rs28929498 |
| ClinGen | rs28929498 |
| ebi | rs28929498 |
| HLI | rs28929498 |
| Exac | rs28929498 |
| Gnomad | rs28929498 |
| Varsome | rs28929498 |
| LitVar | rs28929498 |
| Map | rs28929498 |
| PheGenI | rs28929498 |
| Biobank | rs28929498 |
| 1000 genomes | rs28929498 |
| hgdp | rs28929498 |
| ensembl | rs28929498 |
| geneview | rs28929498 |
| scholar | rs28929498 |
| rs28929498 | |
| pharmgkb | rs28929498 |
| gwascentral | rs28929498 |
| openSNP | rs28929498 |
| 23andMe | rs28929498 |
| SNPshot | rs28929498 |
| SNPdbe | rs28929498 |
| MSV3d | rs28929498 |
| GWAS Ctlg | rs28929498 |
| Max Magnitude | 0 |
NOTE: the OMIM entry cited below refers to a somatic mutation, not a germline SNP
| ClinVar | |
|---|---|
| Risk | rs28929498(T;T) |
| Alt | rs28929498(T;T) |
| Reference | Rs28929498(A;A) |
| Significance | Pathogenic |
| Disease | Autoimmune lymphoproliferative syndrome |
| Variation | info |
| Gene | FAS |
| CLNDBN | Autoimmune lymphoproliferative syndrome, type 1a |
| Reversed | 0 |
| HGVS | NC_000010.10:g.90773978A>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000017968.25, |
