Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912651
rs121912651
TP53
CUI: C0878638
Disease: Abnormality of the tongue
Abnormality of the tongue 		A 0.700 CausalMutation CLINVAR

dbSNP: rs121912651
rs121912651
TP53
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		C 0.710 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121912651
rs121912651
TP53
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		A 0.710 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121912651
rs121912651
TP53
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.710 GeneticVariation BEFREE To further investigate the mechanism of pemetrexed resistance and potential prognostic outcomes in lung cancer, we established pemetrexed-resistant lung adenocarcinoma cell sublines from CL1 harboring a mutated TP53 gene (R248W) and A549 harboring wild-type TP53. 27270426

2017
dbSNP: rs121912651
rs121912651
TP53
CUI: C0281361
Disease: Adenocarcinoma of pancreas
Adenocarcinoma of pancreas 		A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121912651
rs121912651
TP53
CUI: C0281361
Disease: Adenocarcinoma of pancreas
Adenocarcinoma of pancreas 		C 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121912651
rs121912651
TP53
CUI: C0007112
Disease: Adenocarcinoma of prostate
Adenocarcinoma of prostate 		C 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121912651
rs121912651
TP53
CUI: C0007112
Disease: Adenocarcinoma of prostate
Adenocarcinoma of prostate 		A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121912651
rs121912651
TP53
CUI: C0238461
Disease: Anaplastic thyroid carcinoma
Anaplastic thyroid carcinoma 		0.010 GeneticVariation BEFREE Adoptive overexpression of wild-type p53, but not of its inactive (R248W and R273H) mutants, strongly down-regulated transcription from the MCM7 promoter, suggesting that p53 knock-out contributes to MCM7 up-regulation in ATC. 15899946

2005
dbSNP: rs121912651
rs121912651
TP53
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		C 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121912651
rs121912651
TP53
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121912651
rs121912651
TP53
CUI: C0677865
Disease: Brain Stem Glioma
Brain Stem Glioma 		A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121912651
rs121912651
TP53
CUI: C0677865
Disease: Brain Stem Glioma
Brain Stem Glioma 		C 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121912651
rs121912651
TP53
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 GeneticVariation BEFREE Several lines of evidence further indicate gain-of-function of p53 mutants in promoting tumorigenesis. p53(R248W) mice rapidly succumb to certain types of cancers not commonly observed in p53(-/-) mice. 17417627

2007
dbSNP: rs121912651
rs121912651
TP53
CUI: C0007097
Disease: Carcinoma
Carcinoma 		0.010 GeneticVariation BEFREE A homozygous p53 R248W gain-of-function mutation as the result of a CGG to TGG transition was identified in one of seven sebaceous gland carcinomas. 18717684

2008
dbSNP: rs121912651
rs121912651
TP53
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 GeneticVariation BEFREE It remains unclear at this time whether a similar association of NB and R248W in patients with LFS exists. 17427234

2008
dbSNP: rs121912651
rs121912651
TP53
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		0.010 GeneticVariation BEFREE It remains unclear at this time whether a similar association of NB and R248W in patients with LFS exists. 17427234

2008
dbSNP: rs121912651
rs121912651
TP53
CUI: C0867389
Disease: Chronic graft-versus-host disease
Chronic graft-versus-host disease 		0.010 GeneticVariation BEFREE Moreover, the detection of pathogenic variants, including single nucleotide substitution of TP53 (c.346C>T) and BRCA2 (c.6952C>T) and splicing of KDM6A (c.1194+2T>G), suggest that the development of ESCC in the patient was triggered by impairment of checkpoint and repair for DNA damage and epigenetic modification through accumulation of gene mutations induced by chronic graft-versus-host disease and prolonged administration of tacrolimus. 30499911

2018
dbSNP: rs121912651
rs121912651
TP53
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121912651
rs121912651
TP53
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		C 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121912651
rs121912651
TP53
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs121912651
rs121912651
TP53
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		C 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121912651
rs121912651
TP53
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121912651
rs121912651
TP53
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		A 0.700 CausalMutation CLINVAR

dbSNP: rs121912651
rs121912651
TP53
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		C 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016