Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750490
rs63750490
PMS2
A 0.700 CausalMutation CLINVAR Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome. 22692065

2013
dbSNP: rs63750490
rs63750490
PMS2
A 0.700 CausalMutation CLINVAR Paediatric intestinal cancer and polyposis due to bi-allelic PMS2 mutations: case series, review and follow-up guidelines. 21376568

2011
dbSNP: rs63750490
rs63750490
PMS2
A 0.700 CausalMutation CLINVAR Multifocal anaplastic astrocytoma in a patient with hereditary colorectal cancer, transcobalamin II deficiency, agenesis of the corpus callosum, mental retardation, and inherited PMS2 mutation. 17993636

2008