rs146848345, PMS2

N. diseases: 1
Disease: Turcot syndrome (disorder) ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Turcot syndrome (disorder)
CUI: C0265325
Disease: Turcot syndrome (disorder)
0.010 GeneticVariation BEFREE Identification of a novel PMS2 alteration c.505C>G (R169G) in trans with a PMS2 pathogenic mutation in a patient with constitutional mismatch repair deficiency. 27017610 2016