rs776245016
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs776245016(A;A) |
| Make rs776245016(A;G) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 17 |
| Position | 5558520 |
| Gene | NLRP1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs776245016 |
| dbSNP (classic) | rs776245016 |
| ClinGen | rs776245016 |
| ebi | rs776245016 |
| HLI | rs776245016 |
| Exac | rs776245016 |
| Gnomad | rs776245016 |
| Varsome | rs776245016 |
| LitVar | rs776245016 |
| Map | rs776245016 |
| PheGenI | rs776245016 |
| Biobank | rs776245016 |
| 1000 genomes | rs776245016 |
| hgdp | rs776245016 |
| ensembl | rs776245016 |
| geneview | rs776245016 |
| scholar | rs776245016 |
| rs776245016 | |
| pharmgkb | rs776245016 |
| gwascentral | rs776245016 |
| openSNP | rs776245016 |
| 23andMe | rs776245016 |
| SNPshot | rs776245016 |
| SNPdbe | rs776245016 |
| MSV3d | rs776245016 |
| GWAS Ctlg | rs776245016 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs776245016(A;A) |
| Alt | rs776245016(A;A) |
| Reference | Rs776245016(G;G) |
| Significance | Pathogenic |
| Disease | Autoinflammation with arthritis and dyskeratosis |
| Variation | info |
| Gene | NLRP1 |
| CLNDBN | Autoinflammation with arthritis and dyskeratosis |
| Reversed | 0 |
| HGVS | NC_000017.10:g.5461840G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000445355.1, |
