rs193922659
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs193922659(-;-) |
| Make rs193922659(-;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 5 |
| Position | 147831551 |
| Gene | SPINK1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs193922659 |
| dbSNP (classic) | rs193922659 |
| ClinGen | rs193922659 |
| ebi | rs193922659 |
| HLI | rs193922659 |
| Exac | rs193922659 |
| Gnomad | rs193922659 |
| Varsome | rs193922659 |
| LitVar | rs193922659 |
| Map | rs193922659 |
| PheGenI | rs193922659 |
| Biobank | rs193922659 |
| 1000 genomes | rs193922659 |
| hgdp | rs193922659 |
| ensembl | rs193922659 |
| geneview | rs193922659 |
| scholar | rs193922659 |
| rs193922659 | |
| pharmgkb | rs193922659 |
| gwascentral | rs193922659 |
| openSNP | rs193922659 |
| 23andMe | rs193922659 |
| SNPshot | rs193922659 |
| SNPdbe | rs193922659 |
| MSV3d | rs193922659 |
| GWAS Ctlg | rs193922659 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs193922659(-;-) |
| Alt | rs193922659(-;-) |
| Reference | Rs193922659(C;C) |
| Significance | Pathogenic |
| Disease | Hereditary pancreatitis |
| Variation | info |
| Gene | SPINK1 |
| CLNDBN | Hereditary pancreatitis |
| Reversed | 1 |
| HGVS | NC_000005.9:g.147211114delG |
| CLNSRC | ClinVar LabCorp |
| CLNACC | RCV000030460.4, |
[PMID 14722925] Two novel severe mutations in the pancreatic secretory trypsin inhibitor gene (SPINK1) cause familial and/or hereditary pancreatitis.
[PMID 16823394] Detection of a large genomic deletion in the pancreatic secretory trypsin inhibitor (SPINK1) gene.
[PMID 16981266
] Association of rare SPINK1 gene mutation with another base substitution in chronic pancreatitis patients.
[PMID 17274009] Signal peptide variants that impair secretion of pancreatic secretory trypsin inhibitor (SPINK1) cause autosomal dominant hereditary pancreatitis.
[PMID 17568390] Functional analysis of pancreatitis-associated missense mutations in the pancreatic secretory trypsin inhibitor (SPINK1) gene.
