Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912657
rs121912657
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 GeneticVariation CLINVAR Dominant-negative features of mutant TP53 in germline carriers have limited impact on cancer outcomes. 21343334

2011
dbSNP: rs121912657
rs121912657
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 GeneticVariation CLINVAR Altered-function p53 missense mutations identified in breast cancers can have subtle effects on transactivation. 20407015

2010
dbSNP: rs121912657
rs121912657
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 GeneticVariation CLINVAR Analysis of the DNA-binding activity of p53 mutants using functional protein microarrays and its relationship to transcriptional activation. 20128691

2010
dbSNP: rs121912657
rs121912657
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 GeneticVariation CLINVAR Transcriptional functionality of germ line p53 mutants influences cancer phenotype. 17606709

2007
dbSNP: rs121912657
rs121912657
TP53
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 GeneticVariation CLINVAR Hereditary and acquired p53 gene mutations in childhood acute lymphoblastic leukemia. 1737852

1992