rs17107315
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common genotype |
| (C;C) | 4 | risk of pancreatitis |
| (C;T) | 3 | risk of pancreatitis |
| (T;T) | 0 | normal |
| Reference | GRCh38 38.1/142 |
| Chromosome | 5 |
| Position | 147828115 |
| Gene | SPINK1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs17107315 |
| dbSNP (classic) | rs17107315 |
| ClinGen | rs17107315 |
| ebi | rs17107315 |
| HLI | rs17107315 |
| Exac | rs17107315 |
| Gnomad | rs17107315 |
| Varsome | rs17107315 |
| LitVar | rs17107315 |
| Map | rs17107315 |
| PheGenI | rs17107315 |
| Biobank | rs17107315 |
| 1000 genomes | rs17107315 |
| hgdp | rs17107315 |
| ensembl | rs17107315 |
| geneview | rs17107315 |
| scholar | rs17107315 |
| rs17107315 | |
| pharmgkb | rs17107315 |
| gwascentral | rs17107315 |
| openSNP | rs17107315 |
| 23andMe | rs17107315 |
| SNPshot | rs17107315 |
| SNPdbe | rs17107315 |
| MSV3d | rs17107315 |
| GWAS Ctlg | rs17107315 |
| GMAF | 0.005969 |
| Max Magnitude | 4 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | rs17107315(G;G) |
| Alt | rs17107315(G;G) |
| Reference | Rs17107315(A;A) |
| Significance | Other |
| Disease | Pancreatitis Hereditary pancreatitis not specified |
| Variation | info |
| Gene | SPINK1 |
| CLNDBN | Pancreatitis, chronic, susceptibility to Hereditary pancreatitis not specified |
| Reversed | 1 |
| HGVS | NC_000005.9:g.147207678T>C |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000014768.6, RCV000119030.5, RCV000489486.1, |
[PMID 17204] Characterization of longstanding specific unresponsiveness in adult recipients of strongly histoincompatible hemopoietic stem cells.
[PMID 10691414
] Mutational analysis of the human pancreatic secretory trypsin inhibitor (PSTI) gene in hereditary and sporadic chronic pancreatitis.
[PMID 10835640] Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic 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 19453252] Chronic pancreatitis: genetics and pathogenesis.
[PMID 28556356] Identification of a functional enhancer variant within the chronic pancreatitis-associated SPINK1 c.101A>G (p.Asn34Ser)-containing haplotype.
