rs17879961, CHEK2

N. diseases: 53
Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
CUI: C1832661
Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA
0.010 GeneticVariation BEFREE This retrospective study demonstrates novel risk estimates of K3326X and I157T in sporadic PDAC which suggest that upon validation and in combination with other established genetic and non-genetic risk factors, these mutations may be used to improve pancreatic cancer risk assessment in European populations. 30672594 2019