rs17879961, CHEK2

N. diseases: 53
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
0.030 GeneticVariation BEFREE Rare truncating BRCA2 K3326X (rs11571833) and pathogenic CHEK2 I157T (rs17879961) variants have previously been implicated in familial pancreatic ductal adenocarcinoma (PDAC), but not in sporadic cases. 30672594 2019
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
0.030 GeneticVariation BEFREE We conclude that the I157T and other alterations in its proximity predispose to sporadic but not to familial CRC in the Czech population. 18996005 2009
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
0.030 GeneticVariation BEFREE CHEK2 I157T associates with an increased risk of CRC: the association was observed both among familial and sporadic CRC patients. 16816021 2006