rs876659675, TP53

N. diseases: 8
Disease: Peutz-Jeghers Syndrome ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Peutz-Jeghers Syndrome
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
0.010 GeneticVariation BEFREE Recent work has led to the identification of four mutants (R304W, I177N, K175-D176del, L263fsX286) and two novel aberrant LKB1/STK11 cDNA isoforms (r291-464del, r485-1283del) in a group of PJS Italian patients. 12552571 2003