Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs13222385
rs13222385
EGFR ; EGFR-AS1
0.010 GeneticVariation BEFREE SNPs in cancer genes including rs2159359 SNP in NME1 and rs13222385 in EGFR may stratify risk in EEC and are prioritized for further investigation. 30827726

2019
dbSNP: rs2159359
rs2159359
NME1 ; NME1-NME2
0.010 GeneticVariation BEFREE SNPs in cancer genes including rs2159359 SNP in NME1 and rs13222385 in EGFR may stratify risk in EEC and are prioritized for further investigation. 30827726

2019
dbSNP: rs1173679499
rs1173679499
TP63
0.010 GeneticVariation BEFREE OMESCs from EEC patients carrying the most severe p63 mutations (p.R279H and p.R304Q) were characterized and the genetic defect of p.R279H silenced using allele-specific (AS) small interfering RNAs (siRNAs). 26891374

2016
dbSNP: rs777255243
rs777255243
TP63
0.010 GeneticVariation BEFREE OMESCs from EEC patients carrying the most severe p63 mutations (p.R279H and p.R304Q) were characterized and the genetic defect of p.R279H silenced using allele-specific (AS) small interfering RNAs (siRNAs). 26891374

2016
dbSNP: rs113993965
rs113993965
TP63
0.010 GeneticVariation BEFREE Here, we report the identification of two TP63 alleles, G134V (p.Gly173Val) and insR155 (p.Thr193_Tyr194insArg), associated to ADULT and EEC syndromes, respectively. 23463580

2013