rs104895565
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 0 | common in clinvar |
| (A;A) | 0 | common in clinvar |
| Make rs104895565(-;TT) |
| Make rs104895565(TT;TT) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 19 |
| Position | 53809584 |
| Gene | NLRP12 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs104895565 |
| dbSNP (classic) | rs104895565 |
| ClinGen | rs104895565 |
| ebi | rs104895565 |
| HLI | rs104895565 |
| Exac | rs104895565 |
| Gnomad | rs104895565 |
| Varsome | rs104895565 |
| LitVar | rs104895565 |
| Map | rs104895565 |
| PheGenI | rs104895565 |
| Biobank | rs104895565 |
| 1000 genomes | rs104895565 |
| hgdp | rs104895565 |
| ensembl | rs104895565 |
| geneview | rs104895565 |
| scholar | rs104895565 |
| rs104895565 | |
| pharmgkb | rs104895565 |
| gwascentral | rs104895565 |
| openSNP | rs104895565 |
| 23andMe | rs104895565 |
| SNPshot | rs104895565 |
| SNPdbe | rs104895565 |
| MSV3d | rs104895565 |
| GWAS Ctlg | rs104895565 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs104895565(TT;TT) rs104895565(T;T) |
| Alt | rs104895565(TT;TT) rs104895565(T;T) |
| Reference | Rs104895565(-;-) |
| Significance | Pathogenic |
| Disease | Familial cold autoinflammatory syndrome 2 not provided |
| Variation | info |
| Gene | NLRP12 |
| CLNDBN | Familial cold autoinflammatory syndrome 2 not provided |
| Reversed | 1 |
| HGVS | NC_000019.9:g.54312839dupA |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000001664.3, RCV000084144.1, |
