Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1042522
rs1042522
TP53
0.020 GeneticVariation BEFREE A polymorphism (rs1042522) in TP53 gene is a risk factor for Down Syndrome in Sicilian mothers. 27852141

2017
dbSNP: rs1042522
rs1042522
TP53
0.020 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