rs587781858, TP53

N. diseases: 12
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.010 GeneticVariation BEFREE Our results suggest that TP53 c.215G>C, p. (Arg72Pro) polymorphism may be considered as a genetic marker for predisposition to BC in Moroccan population. 29949804 2018
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.010 GeneticVariation BEFREE Our results suggest that TP53 c.215G>C, p. (Arg72Pro) polymorphism may be considered as a genetic marker for predisposition to BC in Moroccan population. 29949804 2018
Tongue Carcinoma
CUI: C0558353
Disease: Tongue Carcinoma
0.010 GeneticVariation BEFREE Hence, we examined the effect of TP53 polymorphisms (EX4 215G>C, IVS3+40-41ins16 and IVS6+62G>A) on buccal mucosa cancer (BMC) and tongue cancer (TC) risk, survival of patients in relation to risk and clinical factors, gender wise (excepting for estimating hazards ratio [HR]), using Fisher's Exact Test, Kaplan-Meier analysis, and Cox-proportional hazards models. 27532290 2017
Malignant neoplasm of cheek mucosa
CUI: C0153373
Disease: Malignant neoplasm of cheek mucosa
0.010 GeneticVariation BEFREE Hence, we examined the effect of TP53 polymorphisms (EX4 215G>C, IVS3+40-41ins16 and IVS6+62G>A) on buccal mucosa cancer (BMC) and tongue cancer (TC) risk, survival of patients in relation to risk and clinical factors, gender wise (excepting for estimating hazards ratio [HR]), using Fisher's Exact Test, Kaplan-Meier analysis, and Cox-proportional hazards models. 27532290 2017
Malignant neoplasm of tongue
CUI: C0153349
Disease: Malignant neoplasm of tongue
0.010 GeneticVariation BEFREE Hence, we examined the effect of TP53 polymorphisms (EX4 215G>C, IVS3+40-41ins16 and IVS6+62G>A) on buccal mucosa cancer (BMC) and tongue cancer (TC) risk, survival of patients in relation to risk and clinical factors, gender wise (excepting for estimating hazards ratio [HR]), using Fisher's Exact Test, Kaplan-Meier analysis, and Cox-proportional hazards models. 27532290 2017
Fast acetylator due to N-acetyltransferase enzyme variant
0.010 GeneticVariation BEFREE We identified 'less credible' associations (higher heterogeneity, lower statistical power, BFDP > 0.02) with a further four variants of four independent genes: MTHFR c.677C>T p.A222V (rs1801133), TP53 c.215C>G p.R72P (rs1042522), NQO1 c.559C>T p.P187S (rs1800566), and NAT1 alleles imputed as fast acetylator genotypes. 26451011 2016
Down Syndrome
CUI: C0013080
Disease: Down Syndrome
0.010 GeneticVariation BEFREE The aim of this study was to evaluate the effect of maternal polymorphisms TP53 c.215G>C (P72R), TP73 4 c.-30G>A and 14 c.-20C>T, MDM2 c.14+309T>G (SNP309), MDM4 c.753+572C>T and USP7 c.2719-234G>A as risk factors for Down Syndrome (DS) birth. 23089923 2013
Complete Trisomy 21 Syndrome
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
0.010 GeneticVariation BEFREE The aim of this study was to evaluate the effect of maternal polymorphisms TP53 c.215G>C (P72R), TP73 4 c.-30G>A and 14 c.-20C>T, MDM2 c.14+309T>G (SNP309), MDM4 c.753+572C>T and USP7 c.2719-234G>A as risk factors for Down Syndrome (DS) birth. 23089923 2013
Amyotrophic Lateral Sclerosis, Sporadic
0.010 GeneticVariation BEFREE Based on this particular observation, we decided to evaluate whether the TP53 Arg72Pro polymorphism (rs1042522) (C215G) was implicated in the etiopathology of sporadic amyotrophic lateral sclerosis (SALS). 21741128 2011
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
0.010 GeneticVariation BEFREE We investigated the effects of the germ-line single nucleotide polymorphisms TP53 R72P (215G>C) and MDM2 SNP309 (-410T>G), and p53 protein expression in breast tumors on survival. 20021639 2009
Achondroplasia
CUI: C0001080
Disease: Achondroplasia
0.010 GeneticVariation BEFREE A mouse model for achondroplasia was generated by introducing the human mutation (glycine 380-arginine) into the mouse fibroblast growth factor receptor 3 (G374R) by a "knock-in" approach using gene targeting leading to a constitutively active receptor. 11518810 2001
Dwarfism
CUI: C0013336
Disease: Dwarfism
0.010 GeneticVariation BEFREE Here we report that female (fibroblast growth factor receptor 3 G374R) dwarf mice become infertile. 11518810 2001