Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs10254120
rs10254120
PMS2
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 GeneticVariation BEFREE Two co-existing germline mutations P53 V157D and PMS2 R20Q promote tumorigenesis in a familial cancer syndrome. 23981578

2014
dbSNP: rs10254120
rs10254120
PMS2
CUI: C1333600
Disease: Hereditary Malignant Neoplasm
Hereditary Malignant Neoplasm 		0.010 GeneticVariation BEFREE Two co-existing germline mutations P53 V157D and PMS2 R20Q promote tumorigenesis in a familial cancer syndrome. 23981578

2014
dbSNP: rs10254120
rs10254120
PMS2
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.010 GeneticVariation BEFREE We further demonstrate that P53 V157D and/or PMS2 R20Q mutant promotes lung cancer cell proliferation. 23981578

2014
dbSNP: rs10254120
rs10254120
PMS2
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.010 GeneticVariation BEFREE We further demonstrate that P53 V157D and/or PMS2 R20Q mutant promotes lung cancer cell proliferation. 23981578

2014
dbSNP: rs10254120
rs10254120
PMS2
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 GeneticVariation BEFREE We further demonstrate that P53 V157D and/or PMS2 R20Q mutant promotes lung cancer cell proliferation. 23981578

2014