rs267606982, PRSS1

N. diseases: 11
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Pancreatitis, Chronic
CUI: C0149521
Disease: Pancreatitis, Chronic
0.060 GeneticVariation BEFREE Our study showing the differential role of p.R122H mutation in various etiologies of CP indicates that this complex disorder is likely influenced by multiple genetic factors as well as environmental factors. 29118810 2017
Pancreatitis, Chronic
CUI: C0149521
Disease: Pancreatitis, Chronic
0.060 GeneticVariation BEFREE Screening of R122H and N29I mutations in the PRSS1 gene and N34S mutation in the SPINK1 gene in Mexican pediatric patients with acute and recurrent pancreatitis. 22699143 2012
Pancreatitis, Chronic
CUI: C0149521
Disease: Pancreatitis, Chronic
0.060 GeneticVariation BEFREE The R122H mutation represents the most common point mutation of the cationic trypsinogen gene (PRSS1) in patients with hereditary pancreatitis (HP; Online Mendelian inheritance in man [OMIM] 167800), a rare variety of chronic pancreatitis. 18702646 2008
Pancreatitis, Chronic
CUI: C0149521
Disease: Pancreatitis, Chronic
0.060 GeneticVariation BEFREE Four out of five (80%) male individuals with the R122H mutation also had clinical pancreatitis, whereas none of the three mutation-positive females had any signs or symptoms of chronic pancreatitis. 17613931 2007
Pancreatitis, Chronic
CUI: C0149521
Disease: Pancreatitis, Chronic
0.060 GeneticVariation BEFREE The two trypsinogen mutations N29I and R122H were identified in a group of 550 patients with chronic pancreatitis of unclear origin. 11755505 2001
Pancreatitis, Chronic
CUI: C0149521
Disease: Pancreatitis, Chronic
0.060 GeneticVariation BEFREE The R122H mutation was detected in 1 patient with alcoholic chronic pancreatitis and all 3 affected members of a HP family. 11549837 2001