Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs11571833
rs11571833
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.720 GeneticVariation BEFREE Association of BRCA2 K3326* With Small Cell Lung Cancer and Squamous Cell Cancer of the Skin. 29767749

2018

dbSNP: rs11571833
rs11571833
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.720 GeneticVariation BEFREE We analyzed the association between BRCA2 SNP rs11571833 and upper aerodigestive tract (UADT) cancer risk with multivariable unconditional logistic regression adjusted by sex and combinations of study and country for 5942 UADT squamous cell carcinoma case patients and 8086 control patients from nine different studies.All statistical tests were two-sided. rs11571833 was associated with UADT cancers (odds ratio = 2.53, 95% confidence interval = 1.89 to 3.38, P = 3x10(-10)) and was present in European, Latin American, and Indian populations but extremely rare in Japanese populations. 25838448

2015

dbSNP: rs1126809
rs1126809
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.710 GeneticVariation BEFREE The TYR haplotype carrying only the Arg402Gln variant allele was significantly associated with SCC risk (OR, 1.35; 95% CI, 1.04-1.74). 19384953

2009

dbSNP: rs12203592
rs12203592
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.710 GeneticVariation BEFREE Along with two known pigmentation loci, MC1R and OCA2, the IRF4 rs12203592 T allele was associated with an increased risk of each type of skin cancer (P value, 6.6 × 10(-4) for melanoma, 7.0 × 10(-7) for SCC, and 0.04 for BCC). 21270109

2011

dbSNP: rs12296850
rs12296850
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.710 GeneticVariation BEFREE We found that rs12296850 in SLC17A8-NR1H4 gene region at12q23.1 was significantly associated with risk of lung SqCC at genome-wide significance level [additive model: odds ratio (OR) = 0.78, 95% confidence interval (CI) = 0.72-0.84, P = 1.19×10(-10)]. 23341777

2013

dbSNP: rs16891982
rs16891982
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.710 GeneticVariation BEFREE A melanoma- and pigmentation-associated variant in the SLC45A2 gene, L374F, is associated with risk of both BCC and squamous cell carcinoma. 19578363

2009

dbSNP: rs1800407
rs1800407
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.710 GeneticVariation BEFREE The TYR haplotype carrying only the Arg402Gln variant allele was significantly associated with SCC risk (OR, 1.35; 95% CI, 1.04-1.74). 19384953

2009

dbSNP: rs1042522
rs1042522
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.090 GeneticVariation BEFREE Effect of TP53 rs1042522 on the susceptibility of patients to oral squamous cell carcinoma and oral leukoplakia: a meta-analysis. 30126398

2018

dbSNP: rs1042522
rs1042522
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.090 GeneticVariation BEFREE In this study, we analyzed the association of TP53 Pro72Arg polymorphism with squamous cell carcinoma of oral tongue (SCCOT) and esophagus (ESCC) in India. 25436609

2014

dbSNP: rs1042522
rs1042522
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.090 GeneticVariation BEFREE Polymorphism Arg72Pro of p53 confers susceptibility to squamous cell carcinoma of lungs in a North Indian population. 23317414

2013

dbSNP: rs1042522
rs1042522
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.090 GeneticVariation BEFREE P53 (Pro72Arg) polymorphism associated with the risk of oral squamous cell carcinoma in gutka, niswar and manpuri addicted patients of Pakistan. 23683469

2013

dbSNP: rs1042522
rs1042522
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.090 GeneticVariation BEFREE In a large prospective cohort, p53 Arg72Pro Pro/Pro was associated with a 2-fold increased risk of death in all esophageal cancers, whereas MDM2 T309G G/G was associated with a 7-fold increased risk of death in squamous cell carcinoma. 19383811

2009

dbSNP: rs1042522
rs1042522
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.090 GeneticVariation BEFREE We evaluated the effect of MDM2 SNP309 and its interaction with the p53 Arg72Pro polymorphism on pigmentary phenotypes and skin cancer risk in a nested case-control study within the Nurses' Health Study (NHS) among 219 melanoma cases, 286 squamous cell carcinoma (SCC) cases, 300 basal cell carcinoma (BCC) cases, and 873 controls, and among controls from other studies. 18814047

2009

dbSNP: rs1042522
rs1042522
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.090 GeneticVariation BEFREE Our data indicate that the TP53 Arg72Pro polymorphism increases the risk for squamous-cell carcinoma mainly in heavy smokers. 17059853

2007

dbSNP: rs1042522
rs1042522
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.090 GeneticVariation BEFREE We evaluated the association of the Arg72Pro polymorphism with skin cancer risk among Caucasians in a nested case-control study within the Nurses' Health Study (NHS) (219 melanoma, 286 squamous cell carcinoma (SCC), and 300 basal cell carcinoma (BCC) and 874 controls). 16739124

2006

dbSNP: rs1042522
rs1042522
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.090 GeneticVariation BEFREE p53 codon 72 ARG/PRO polymorphism is not related to HPV type or lesion grade in low- and high-grade squamous intra-epithelial lesions and invasive squamous carcinoma of the cervix. 10449610

1999

dbSNP: rs1131691014
rs1131691014
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.080 GeneticVariation BEFREE In this study, we analyzed the association of TP53 Pro72Arg polymorphism with squamous cell carcinoma of oral tongue (SCCOT) and esophagus (ESCC) in India. 25436609

2014

dbSNP: rs1131691014
rs1131691014
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.080 GeneticVariation BEFREE P53 (Pro72Arg) polymorphism associated with the risk of oral squamous cell carcinoma in gutka, niswar and manpuri addicted patients of Pakistan. 23683469

2013

dbSNP: rs1131691014
rs1131691014
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.080 GeneticVariation BEFREE Polymorphism Arg72Pro of p53 confers susceptibility to squamous cell carcinoma of lungs in a North Indian population. 23317414

2013

dbSNP: rs1131691014
rs1131691014
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.080 GeneticVariation BEFREE In a large prospective cohort, p53 Arg72Pro Pro/Pro was associated with a 2-fold increased risk of death in all esophageal cancers, whereas MDM2 T309G G/G was associated with a 7-fold increased risk of death in squamous cell carcinoma. 19383811

2009

dbSNP: rs1131691014
rs1131691014
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.080 GeneticVariation BEFREE We evaluated the effect of MDM2 SNP309 and its interaction with the p53 Arg72Pro polymorphism on pigmentary phenotypes and skin cancer risk in a nested case-control study within the Nurses' Health Study (NHS) among 219 melanoma cases, 286 squamous cell carcinoma (SCC) cases, 300 basal cell carcinoma (BCC) cases, and 873 controls, and among controls from other studies. 18814047

2009

dbSNP: rs1131691014
rs1131691014
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.080 GeneticVariation BEFREE Our data indicate that the TP53 Arg72Pro polymorphism increases the risk for squamous-cell carcinoma mainly in heavy smokers. 17059853

2007

dbSNP: rs1131691014
rs1131691014
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.080 GeneticVariation BEFREE We evaluated the association of the Arg72Pro polymorphism with skin cancer risk among Caucasians in a nested case-control study within the Nurses' Health Study (NHS) (219 melanoma, 286 squamous cell carcinoma (SCC), and 300 basal cell carcinoma (BCC) and 874 controls). 16739124

2006

dbSNP: rs1131691014
rs1131691014
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.080 GeneticVariation BEFREE p53 codon 72 ARG/PRO polymorphism is not related to HPV type or lesion grade in low- and high-grade squamous intra-epithelial lesions and invasive squamous carcinoma of the cervix. 10449610

1999

dbSNP: rs878854066
rs878854066
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.080 GeneticVariation BEFREE In this study, we analyzed the association of TP53 Pro72Arg polymorphism with squamous cell carcinoma of oral tongue (SCCOT) and esophagus (ESCC) in India. 25436609

2014