Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057515572
rs1057515572
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C1838333
Disease:
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
ACT 0.700 GeneticVariation CLINVAR Novel biallelic mutations in MSH6 and PMS2 genes: gene conversion as a likely cause of PMS2 gene inactivation. 17557300 2007