Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913343
rs121913343
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.710 GeneticVariation BEFREE We further demonstrate by glutathione-S-transferase (GST) pull-down and coimmunoprecipitation that PBF binds to the tumor suppressor protein p53, as well as to p53 mutants (Δ126-132, M133K, V197E, G245D, I255F and R273C) identified in the colorectal tumors. 25408419

2016

dbSNP: rs121913343
rs121913343
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
T 0.710 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016