Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267608153
rs267608153
PMS2
A 0.700 GeneticVariation CLINVAR The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers. 26110232

2016
dbSNP: rs267608153
rs267608153
PMS2
A 0.700 GeneticVariation CLINVAR Splicing analysis for exonic and intronic mismatch repair gene variants associated with Lynch syndrome confirms high concordance between minigene assays and patient RNA analyses. 26247049

2015
dbSNP: rs267608153
rs267608153
PMS2
A 0.700 GeneticVariation CLINVAR Recurrent and founder mutations in the PMS2 gene. 22577899

2013
dbSNP: rs267608153
rs267608153
PMS2
A 0.700 GeneticVariation CLINVAR The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations. 18602922

2008