rs35829419
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common on affy axiom data |
| Make rs35829419(A;A) |
| Make rs35829419(A;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 247425556 |
| Gene | NLRP3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs35829419 |
| dbSNP (classic) | rs35829419 |
| ClinGen | rs35829419 |
| ebi | rs35829419 |
| HLI | rs35829419 |
| Exac | rs35829419 |
| Gnomad | rs35829419 |
| Varsome | rs35829419 |
| LitVar | rs35829419 |
| Map | rs35829419 |
| PheGenI | rs35829419 |
| Biobank | rs35829419 |
| 1000 genomes | rs35829419 |
| hgdp | rs35829419 |
| ensembl | rs35829419 |
| geneview | rs35829419 |
| scholar | rs35829419 |
| rs35829419 | |
| pharmgkb | rs35829419 |
| gwascentral | rs35829419 |
| openSNP | rs35829419 |
| 23andMe | rs35829419 |
| SNPshot | rs35829419 |
| SNPdbe | rs35829419 |
| MSV3d | rs35829419 |
| GWAS Ctlg | rs35829419 |
| GMAF | 0.02112 |
| Max Magnitude | 0 |
[PMID 20182451] Evidence of interaction of CARD8 rs2043211 with NALP3 rs35829419 in Crohn's disease
[PMID 21245836] The Missense Variation Q705K in CIAS1/NALP3/NLRP3 Gene and an NLRP1 Haplotype Are Associated With Celiac Disease
| ? | (A;C) (C;C) | |
|---|---|---|
|
| ||
[PMID 21621776] Interaction of the inflammasome genes CARD8 and NLRP3 in abdominal aortic aneurysms
[PMID 22128899] Association study of CARD8 (p.C10X) and NLRP3 (p.Q705K) variants with rheumatoid arthritis in French and Tunisian populations.
[PMID 22524199] Inflammasome polymorphisms confer susceptibility to sporadic malignant melanoma.
[PMID 23547871] Genetic variants in CARD8 but not in NLRP3 are associated with ankylosing spondylitis
[PMID 24142982
] Genes involved in innate immunity associated with asbestos-related fibrotic changes
[PMID 26535712] NLRP3 rs35829419 polymorphism is associated with increased susceptibility to multiple diseases in humans
[PMID 27819323] Donor and recipient genetic variants in NLRP3 associate with early acute rejection following kidney transplantation.
| ClinVar | |
|---|---|
| Risk | rs35829419(A;A) |
| Alt | rs35829419(A;A) |
| Reference | Rs35829419(C;C) |
| Significance | Non-pathogenic |
| Disease | not specified Familial cold autoinflammatory syndrome Chronic infantile neurological Familial amyloid nephropathy with urticaria AND deafness not provided |
| Variation | info |
| Gene | NLRP3 |
| CLNDBN | not specified Familial cold autoinflammatory syndrome Chronic infantile neurological, cutaneous and articular syndrome Familial amyloid nephropathy with urticaria AND deafness not provided |
| Reversed | 0 |
| HGVS | NC_000001.10:g.247588858C>A |
| CLNSRC | |
| CLNACC | RCV000246002.1, RCV000282807.1, RCV000340224.1, RCV000394881.1, RCV000416176.2, |
[PMID 30728751] Inflammasome Genes' Polymorphisms in Egyptian Chronic Hepatitis C Patients: Influence on Vulnerability to Infection and Response to Treatment.
[PMID 31448710] Frequency of Inflammasome Nlrp1/Nlrp3 Gene Receptor Polimorphisms And The Interleukins IL-1ß/IL-18 Gene Polymorphisms And Their Association With Severity Score In Sickle Cell Disease Patients.
