Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587779328
rs587779328
PMS2
0.700 GeneticVariation UNIPROT Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome. 27435373

2016
dbSNP: rs587779328
rs587779328
PMS2
0.700 GeneticVariation UNIPROT Novel biallelic mutations in MSH6 and PMS2 genes: gene conversion as a likely cause of PMS2 gene inactivation. 17557300

2007
dbSNP: rs587779328
rs587779328
PMS2
0.700 GeneticVariation UNIPROT Novel PMS2 pseudogenes can conceal recessive mutations causing a distinctive childhood cancer syndrome. 15077197

2004
dbSNP: rs587779328
rs587779328
PMS2
0.700 GeneticVariation UNIPROT Drastic genetic instability of tumors and normal tissues in Turcot syndrome. 9419979

1997
dbSNP: rs587779328
rs587779328
PMS2
0.700 GeneticVariation UNIPROT The molecular basis of Turcot's syndrome. 7661930

1995