rs28937896
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs28937896(C;C) |
| Make rs28937896(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 247424507 |
| Gene | NLRP3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs28937896 |
| dbSNP (classic) | rs28937896 |
| ClinGen | rs28937896 |
| ebi | rs28937896 |
| HLI | rs28937896 |
| Exac | rs28937896 |
| Gnomad | rs28937896 |
| Varsome | rs28937896 |
| LitVar | rs28937896 |
| Map | rs28937896 |
| PheGenI | rs28937896 |
| Biobank | rs28937896 |
| 1000 genomes | rs28937896 |
| hgdp | rs28937896 |
| ensembl | rs28937896 |
| geneview | rs28937896 |
| scholar | rs28937896 |
| rs28937896 | |
| pharmgkb | rs28937896 |
| gwascentral | rs28937896 |
| openSNP | rs28937896 |
| 23andMe | rs28937896 |
| SNPshot | rs28937896 |
| SNPdbe | rs28937896 |
| MSV3d | rs28937896 |
| GWAS Ctlg | rs28937896 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs28937896(C;C) |
| Alt | rs28937896(C;C) |
| Reference | Rs28937896(T;T) |
| Significance | Pathogenic |
| Disease | Familial cold urticaria not provided |
| Variation | info |
| Gene | NLRP3 |
| CLNDBN | Familial cold urticaria not provided |
| Reversed | 0 |
| HGVS | NC_000001.10:g.247587809T>C |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000004629.5, RCV000219571.2, |
[PMID 12522564] Fine structure mapping of CIAS1: identification of an ancestral haplotype and a common FCAS mutation, L353P.
