rs17107315, SPINK1

N. diseases: 40
Disease: Hyperparathyroidism, Primary ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hyperparathyroidism, Primary
CUI: C0221002
Disease: Hyperparathyroidism, Primary
0.020 GeneticVariation BEFREE No further SPINK1 p.N34S (n=4) mutations were detected but the probability of either CTRC or SPINK1 mutations in pHPT patients with pancreatitis is high (P<0.05). 20625975 2011
Hyperparathyroidism, Primary
CUI: C0221002
Disease: Hyperparathyroidism, Primary
0.020 GeneticVariation BEFREE Four of 25 patients with pHPT and pancreatitis carried the N34S missense mutation in the SPINK1 gene (16%), while all 50 controls (pHPT without pancreatitis) showed no mutation in SPINK1 or PRSS1 genes (P < 0.05 vs controls, P < 0.001 vs general population). 18076731 2008