rs111033565
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 4.4 | Hereditary pancreatitis |
| (G;G) | 0 | common in clinvar |
| Make rs111033565(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 142751938 |
| Gene | PRSS1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs111033565 |
| dbSNP (classic) | rs111033565 |
| ClinGen | rs111033565 |
| ebi | rs111033565 |
| HLI | rs111033565 |
| Exac | rs111033565 |
| Gnomad | rs111033565 |
| Varsome | rs111033565 |
| LitVar | rs111033565 |
| Map | rs111033565 |
| PheGenI | rs111033565 |
| Biobank | rs111033565 |
| 1000 genomes | rs111033565 |
| hgdp | rs111033565 |
| ensembl | rs111033565 |
| geneview | rs111033565 |
| scholar | rs111033565 |
| rs111033565 | |
| pharmgkb | rs111033565 |
| gwascentral | rs111033565 |
| openSNP | rs111033565 |
| 23andMe | rs111033565 |
| SNPshot | rs111033565 |
| SNPdbe | rs111033565 |
| MSV3d | rs111033565 |
| GWAS Ctlg | rs111033565 |
| Merged from | Rs77914057 |
| Max Magnitude | 4.4 |
aka c.365G>A, p.Arg122His, and R122H ; 23andMe name: i5005351
The rs111033565(A) mutant allele is reported to be the most common mutation found in early-onset (pediatric) acute recurrent pancreatitis (ARP) or chronic pancreatitis (CP). 10.1016/j.jpeds.2017.03.063
| ClinVar | |
|---|---|
| Risk | rs111033565(A;A) |
| Alt | rs111033565(A;A) |
| Reference | Rs111033565(G;G) |
| Significance | Pathogenic |
| Disease | Hereditary pancreatitis not provided |
| Variation | info |
| Gene | PRSS1 |
| CLNDBN | Hereditary pancreatitis not provided |
| Reversed | 0 |
| HGVS | NC_000007.13:g.142459789G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000012651.26, RCV000487005.1, |
[PMID 1720414] Monoclonal antibodies which identify carbohydrate-defined MHC class I epitopes.
[PMID 8841182] Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen gene.
[PMID 9557894] Heterogeneity in hereditary pancreatitis.
[PMID 16885867] Estimation of the prevalence and incidence of chronic pancreatitis and its complications.
[PMID 18286680
] Role of genetic disorders in acute recurrent pancreatitis.
[PMID 20001681] Prevalence of pancreatic diabetes in patients carrying mutations or polymorphisms of the PRSS1 gene in the Han population.
