rs7525979
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs7525979(C;T) |
| Make rs7525979(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 247424106 |
| Gene | NLRP3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs7525979 |
| dbSNP (classic) | rs7525979 |
| ClinGen | rs7525979 |
| ebi | rs7525979 |
| HLI | rs7525979 |
| Exac | rs7525979 |
| Gnomad | rs7525979 |
| Varsome | rs7525979 |
| LitVar | rs7525979 |
| Map | rs7525979 |
| PheGenI | rs7525979 |
| Biobank | rs7525979 |
| 1000 genomes | rs7525979 |
| hgdp | rs7525979 |
| ensembl | rs7525979 |
| geneview | rs7525979 |
| scholar | rs7525979 |
| rs7525979 | |
| pharmgkb | rs7525979 |
| gwascentral | rs7525979 |
| openSNP | rs7525979 |
| 23andMe | rs7525979 |
| SNPshot | rs7525979 |
| SNPdbe | rs7525979 |
| MSV3d | rs7525979 |
| GWAS Ctlg | rs7525979 |
| GMAF | 0.1226 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 24145812] [Corrigendum] Polymorphisms in the NLRP3 gene and risk of primary gouty arthritis
[PMID 18576390
] Autoinflammatory genes and susceptibility to psoriatic juvenile idiopathic arthritis.
| ClinVar | |
|---|---|
| Risk | rs7525979(G;G) rs7525979(T;T) |
| Alt | rs7525979(G;G) rs7525979(T;T) |
| Reference | Rs7525979(C;C) |
| Significance | Non-pathogenic |
| Disease | not specified Familial amyloid nephropathy with urticaria AND deafness Familial cold autoinflammatory syndrome Chronic infantile neurological |
| Variation | info |
| Gene | NLRP3 |
| CLNDBN | not specified Familial amyloid nephropathy with urticaria AND deafness Familial cold autoinflammatory syndrome Chronic infantile neurological, cutaneous and articular syndrome |
| Reversed | 0 |
| HGVS | NC_000001.10:g.247587408C>T |
| CLNSRC | |
| CLNACC | RCV000253525.1, RCV000276738.1, RCV000334195.1, RCV000369011.1, |
[PMID 30131971
] NLRP3 expression in mesencephalic neurons and characterization of a rare NLRP3 polymorphism associated with decreased risk of Parkinson's disease.
