rs80358236
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Make rs80358236(-;-) |
| Make rs80358236(-;ATGCCTCTGGAATGGGAAGACACCTATGGAATTGTCCTGCTTTCTGGAGTGAAGTATAAGAAGGGTGGCCTTGTGATCAATGAA) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 172665642 |
| Gene | FASLG |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80358236 |
| dbSNP (classic) | rs80358236 |
| ClinGen | rs80358236 |
| ebi | rs80358236 |
| HLI | rs80358236 |
| Exac | rs80358236 |
| Gnomad | rs80358236 |
| Varsome | rs80358236 |
| LitVar | rs80358236 |
| Map | rs80358236 |
| PheGenI | rs80358236 |
| Biobank | rs80358236 |
| 1000 genomes | rs80358236 |
| hgdp | rs80358236 |
| ensembl | rs80358236 |
| geneview | rs80358236 |
| scholar | rs80358236 |
| rs80358236 | |
| pharmgkb | rs80358236 |
| gwascentral | rs80358236 |
| openSNP | rs80358236 |
| 23andMe | rs80358236 |
| SNPshot | rs80358236 |
| SNPdbe | rs80358236 |
| MSV3d | rs80358236 |
| GWAS Ctlg | rs80358236 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs80358236(-;-) |
| Alt | rs80358236(-;-) |
| Reference | Rs80358236(ATGCCTCTGGAATGGGAAGACACCTATGGAATTGTCCTGCTTTCTGGAGTGAAGTATAAGAAGGGTGGCCTTGTGATCAATGAA;ATGCCTCTGGAATGGGAAGACACCTATGGAATTGTCCTGCTTTCTGGAGTGAAGTATAAGAAGGGTGGCCTTGTGATCAATGAA) |
| Significance | Pathogenic |
| Disease | Autoimmune lymphoproliferative syndrome |
| Variation | info |
| Gene | FASLG |
| CLNDBN | Autoimmune lymphoproliferative syndrome, type 1b |
| Reversed | 0 |
| HGVS | NC_000001.10:g.172634782_172634865del84 |
| CLNSRC | OMIM Allelic Variant dbVar |
| CLNACC | RCV000017959.28, |
[PMID 8787672
] Fas ligand mutation in a patient with systemic lupus erythematosus and lymphoproliferative disease.
