rs104895220
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs104895220(G;T) |
| Make rs104895220(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 12 |
| Position | 6333817 |
| Gene | TNFRSF1A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs104895220 |
| dbSNP (classic) | rs104895220 |
| ClinGen | rs104895220 |
| ebi | rs104895220 |
| HLI | rs104895220 |
| Exac | rs104895220 |
| Gnomad | rs104895220 |
| Varsome | rs104895220 |
| LitVar | rs104895220 |
| Map | rs104895220 |
| PheGenI | rs104895220 |
| Biobank | rs104895220 |
| 1000 genomes | rs104895220 |
| hgdp | rs104895220 |
| ensembl | rs104895220 |
| geneview | rs104895220 |
| scholar | rs104895220 |
| rs104895220 | |
| pharmgkb | rs104895220 |
| gwascentral | rs104895220 |
| openSNP | rs104895220 |
| 23andMe | rs104895220 |
| SNPshot | rs104895220 |
| SNPdbe | rs104895220 |
| MSV3d | rs104895220 |
| GWAS Ctlg | rs104895220 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs104895220(A;A) rs104895220(T;T) |
| Alt | rs104895220(A;A) rs104895220(T;T) |
| Reference | Rs104895220(G;G) |
| Significance | Pathogenic |
| Disease | TNF receptor-associated periodic fever syndrome (TRAPS) not provided |
| Variation | info |
| Gene | TNFRSF1A |
| CLNDBN | TNF receptor-associated periodic fever syndrome (TRAPS) not provided |
| Reversed | 1 |
| HGVS | NC_000012.11:g.6442983C>A; NC_000012.11:g.6442983C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000013131.23, RCV000286522.1, RCV000083922.1, |
[PMID 10199409] Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes.
[PMID 16508982] Neutrophils from patients with TNFRSF1A mutations display resistance to tumor necrosis factor-induced apoptosis: pathogenetic and clinical implications.
