rs111033567
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| (A;G) | 4.4 | Hereditary pancreatitis |
| Make rs111033567(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 142750582 |
| Gene | PRSS1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs111033567 |
| dbSNP (classic) | rs111033567 |
| ClinGen | rs111033567 |
| ebi | rs111033567 |
| HLI | rs111033567 |
| Exac | rs111033567 |
| Gnomad | rs111033567 |
| Varsome | rs111033567 |
| LitVar | rs111033567 |
| Map | rs111033567 |
| PheGenI | rs111033567 |
| Biobank | rs111033567 |
| 1000 genomes | rs111033567 |
| hgdp | rs111033567 |
| ensembl | rs111033567 |
| geneview | rs111033567 |
| scholar | rs111033567 |
| rs111033567 | |
| pharmgkb | rs111033567 |
| gwascentral | rs111033567 |
| openSNP | rs111033567 |
| 23andMe | rs111033567 |
| SNPshot | rs111033567 |
| SNPdbe | rs111033567 |
| MSV3d | rs111033567 |
| GWAS Ctlg | rs111033567 |
| Max Magnitude | 4.4 |
aka c.68A>G, p.Lys23Arg and K23R
23andMe name: i5005348
| ClinVar | |
|---|---|
| Risk | rs111033567(G;G) |
| Alt | rs111033567(G;G) |
| Reference | Rs111033567(A;A) |
| Significance | Pathogenic |
| Disease | Hereditary pancreatitis |
| Variation | info |
| Gene | PRSS1 |
| CLNDBN | Hereditary pancreatitis |
| Reversed | 0 |
| HGVS | NC_000007.13:g.142458433A>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000012653.14, |
