rs3806268
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs3806268(A;A) |
| Make rs3806268(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 247424175 |
| Gene | NLRP3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs3806268 |
| dbSNP (classic) | rs3806268 |
| ClinGen | rs3806268 |
| ebi | rs3806268 |
| HLI | rs3806268 |
| Exac | rs3806268 |
| Gnomad | rs3806268 |
| Varsome | rs3806268 |
| LitVar | rs3806268 |
| Map | rs3806268 |
| PheGenI | rs3806268 |
| Biobank | rs3806268 |
| 1000 genomes | rs3806268 |
| hgdp | rs3806268 |
| ensembl | rs3806268 |
| geneview | rs3806268 |
| scholar | rs3806268 |
| rs3806268 | |
| pharmgkb | rs3806268 |
| gwascentral | rs3806268 |
| openSNP | rs3806268 |
| 23andMe | rs3806268 |
| SNPshot | rs3806268 |
| SNPdbe | rs3806268 |
| MSV3d | rs3806268 |
| GWAS Ctlg | rs3806268 |
| GMAF | 0.4109 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 24145812] [Corrigendum] Polymorphisms in the NLRP3 gene and risk of primary gouty arthritis
| ClinVar | |
|---|---|
| Risk | rs3806268(A;A) rs3806268(T;T) |
| Alt | rs3806268(A;A) rs3806268(T;T) |
| Reference | Rs3806268(G;G) |
| Significance | Non-pathogenic |
| Disease | not specified Chronic infantile neurological Familial cold autoinflammatory syndrome Familial amyloid nephropathy with urticaria AND deafness |
| Variation | info |
| Gene | NLRP3 |
| CLNDBN | not specified Chronic infantile neurological, cutaneous and articular syndrome Familial cold autoinflammatory syndrome Familial amyloid nephropathy with urticaria AND deafness |
| Reversed | 0 |
| HGVS | NC_000001.10:g.247587477G>A |
| CLNSRC | ClinVar GeneDx |
| CLNACC | RCV000245535.1, RCV000260400.1, RCV000318048.1, RCV000371499.1, |
[PMID 28116820
] The association of NLRP3 and TNFRSF1A polymorphisms with risk of ankylosing spondylitis and treatment efficacy of etanercept.
