rs121908153
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs121908153(A;A) |
| Make rs121908153(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 247424356 |
| Gene | NLRP3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121908153 |
| dbSNP (classic) | rs121908153 |
| ClinGen | rs121908153 |
| ebi | rs121908153 |
| HLI | rs121908153 |
| Exac | rs121908153 |
| Gnomad | rs121908153 |
| Varsome | rs121908153 |
| LitVar | rs121908153 |
| Map | rs121908153 |
| PheGenI | rs121908153 |
| Biobank | rs121908153 |
| 1000 genomes | rs121908153 |
| hgdp | rs121908153 |
| ensembl | rs121908153 |
| geneview | rs121908153 |
| scholar | rs121908153 |
| rs121908153 | |
| pharmgkb | rs121908153 |
| gwascentral | rs121908153 |
| openSNP | rs121908153 |
| 23andMe | rs121908153 |
| SNPshot | rs121908153 |
| SNPdbe | rs121908153 |
| MSV3d | rs121908153 |
| GWAS Ctlg | rs121908153 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs121908153(A;A) rs121908153(C;C) |
| Alt | rs121908153(A;A) rs121908153(C;C) |
| Reference | Rs121908153(G;G) |
| Significance | Pathogenic |
| Disease | Chronic infantile neurological Familial amyloid nephropathy with urticaria AND deafness Familial cold urticaria not provided |
| Variation | info |
| Gene | NLRP3 |
| CLNDBN | Chronic infantile neurological, cutaneous and articular syndrome Familial amyloid nephropathy with urticaria AND deafness Familial cold urticaria not provided |
| Reversed | 0 |
| HGVS | NC_000001.10:g.247587658G>A; NC_000001.10:g.247587658G>C |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000004626.3, RCV000004627.4, RCV000084240.1, RCV000214348.1, RCV000084241.1, |
[PMID 11992256
] New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation underlies both syndromes.
