rs104895228
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs104895228(C;C) |
| Make rs104895228(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 12 |
| Position | 6333764 |
| Gene | TNFRSF1A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs104895228 |
| dbSNP (classic) | rs104895228 |
| ClinGen | rs104895228 |
| ebi | rs104895228 |
| HLI | rs104895228 |
| Exac | rs104895228 |
| Gnomad | rs104895228 |
| Varsome | rs104895228 |
| LitVar | rs104895228 |
| Map | rs104895228 |
| PheGenI | rs104895228 |
| Biobank | rs104895228 |
| 1000 genomes | rs104895228 |
| hgdp | rs104895228 |
| ensembl | rs104895228 |
| geneview | rs104895228 |
| scholar | rs104895228 |
| rs104895228 | |
| pharmgkb | rs104895228 |
| gwascentral | rs104895228 |
| openSNP | rs104895228 |
| 23andMe | rs104895228 |
| SNPshot | rs104895228 |
| SNPdbe | rs104895228 |
| MSV3d | rs104895228 |
| GWAS Ctlg | rs104895228 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs104895228(A;A) rs104895228(C;C) rs104895228(G;G) |
| Alt | rs104895228(A;A) rs104895228(C;C) rs104895228(G;G) |
| Reference | Rs104895228(T;T) |
| 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.6442930A>C; NC_000012.11:g.6442930A>G; NC_000012.11:g.6442930A>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000083940.1, RCV000083939.1, RCV000214793.1, RCV000013138.25, |
[PMID 11817598] An Israeli Arab patient with a de novo TNFRSF1A mutation causing tumor necrosis factor receptor-associated periodic syndrome.
[PMID 14610673] Tumour necrosis factor receptor-associated periodic syndrome with a novel mutation in the TNFRSF1A gene in a Japanese family.
[PMID 15492850] Novel mutations in TNFRSF1A in patients with typical tumor necrosis factor receptor-associated periodic syndrome and with systemic lupus erythematosus in Japanese.
