Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28934576
rs28934576
TP53
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.740 GeneticVariation BEFREE Biallelic GOF mutations (p.R273H and p.R273C) were identified in a 19-year-old male with glioblastoma (allele frequencies 94% and 48%) and a 54-year-old with pT3 penile squamous cell carcinoma (allele frequencies 19% and 27%). 29666004

2018
dbSNP: rs28934576
rs28934576
TP53
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		T 0.740 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs28934576
rs28934576
TP53
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		A 0.740 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs28934576
rs28934576
TP53
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		G 0.740 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs28934576
rs28934576
TP53
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.740 GeneticVariation BEFREE The impact of arsenic trioxide and all-trans retinoic acid on p53 R273H-codon mutant glioblastoma. 24399651

2014
dbSNP: rs28934576
rs28934576
TP53
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.740 GeneticVariation BEFREE We found that zinc re-established chemosensitivity in breast cancer SKBR3 (expressing R175H mutation) and glioblastoma U373MG (expressing R273H mutation) cell lines. 21508668

2011
dbSNP: rs28934576
rs28934576
TP53
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.740 GeneticVariation BEFREE To identify functional binding sites of mutp53, we established a small library of genomic sequences bound by p53(R273H) in U251 human glioblastoma cells using chromatin immunoprecipitation (ChIP). 19139068

2009
dbSNP: rs121912656
rs121912656
TP53
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		T 0.710 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121912656
rs121912656
TP53
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		A 0.710 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121912656
rs121912656
TP53
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		G 0.710 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121912656
rs121912656
TP53
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.710 GeneticVariation BEFREE K27M- and G34V-H3.3 have location-based incidence (brainstem/cortex) and potentially play distinct roles in pediatric GBM pathogenesis. 22661320

2012
dbSNP: rs121913343
rs121913343
TP53
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.710 GeneticVariation BEFREE Biallelic GOF mutations (p.R273H and p.R273C) were identified in a 19-year-old male with glioblastoma (allele frequencies 94% and 48%) and a 54-year-old with pT3 penile squamous cell carcinoma (allele frequencies 19% and 27%). 29666004

2018
dbSNP: rs121913343
rs121913343
TP53
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		T 0.710 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs760043106
rs760043106
TP53
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		G 0.710 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs760043106
rs760043106
TP53
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		C 0.710 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs760043106
rs760043106
TP53
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.710 GeneticVariation BEFREE In our study, a novel germline c.584T>C (p.Ile195Thr) mutation of the p53 gene was found in a 21-year-old male with a glioblastoma and colon cancer. 19405127

2009
dbSNP: rs1057519981
rs1057519981
TP53
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		C 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs1057519981
rs1057519981
TP53
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs1057519983
rs1057519983
TP53
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs1057519989
rs1057519989
TP53
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs1057519989
rs1057519989
TP53
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs1057519991
rs1057519991
TP53
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs1057519992
rs1057519992
TP53
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs1057519992
rs1057519992
TP53
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		C 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs1057519995
rs1057519995
TP53
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016