Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397508687
rs397508687
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0030305
Disease:
Pancreatitis
0.020 GeneticVariation BEFREE These individuals and 50 patients with pHPT without pancreatitis were analyzed for mutations in the serine protease inhibitor Kazal type I (SPINK1) gene (N34S) and the cationic trypsinogen gene (PRSS1) (N29I, R122H) by melting curve analysis and DNA sequencing. 18076731 2008
dbSNP: rs397508687
rs397508687
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0030305
Disease:
Pancreatitis
0.020 GeneticVariation BEFREE The 'self-destruct' model proposed for the R122H mutation is discussed in connection with the existing theory of pancreatitis, and the basic biochemistry and physiology of trypsinogen, with particular reference to R122 as the primary autolysis site of the cationic trypsinogen. 10909845 2000