Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs539075
rs539075
CDH2
0.010 GeneticVariation BEFREE Genome-wide linkage analysis and whole genome sequencing in a Van der Woude syndrome (VWS) family revealed that the SNP, rs539075, within intron 2 of the cadherin 2 gene (CDH2) co-segregated with the disease phenotype. 29524576

2018
dbSNP: rs534391501
rs534391501
GRHL3
0.010 GeneticVariation BEFREE Significantly, we also report the identification of 2 unique missense mutations in the NME proteins in patients with CLP (NME1 R18Q in an IRF6 and GRHL3 mutation-negative patient with van der Woude syndrome and NME2 G71V in a patient with nonsyndromic CLP). 28767310

2017
dbSNP: rs770182236
rs770182236
NME1 ; NME1-NME2
0.010 GeneticVariation BEFREE Significantly, we also report the identification of 2 unique missense mutations in the NME proteins in patients with CLP (NME1 R18Q in an IRF6 and GRHL3 mutation-negative patient with van der Woude syndrome and NME2 G71V in a patient with nonsyndromic CLP). 28767310

2017
dbSNP: rs2235375
rs2235375
IRF6
0.010 GeneticVariation BEFREE To examine the role of the IRF6 mutations in Polish families with Van der Woude syndrome and popliteal pterygium syndrome and to determine the effect of IRF6 single nucleotide polymorphisms (rs7552506, rs2013162, and rs2235375) on cleft lip and/or palate susceptibility. 25489771

2015
dbSNP: rs387906921
rs387906921
RIPK4
0.010 GeneticVariation BEFREE Collectively, our findings provide important mechanistic insight into how the p.Arg412X and p.Ser376X mutations may cause VWS and BPS, respectively. 25784454

2015
dbSNP: rs2235371
rs2235371
IRF6
0.010 GeneticVariation BEFREE (2) To test for association, in nonsyndromic cleft lip and/or cleft palate (NSCL/P) and in VWS/PPS families, the single nucleotide polymorphism (SNP) rs642961, from the IRF6 enhancer AP-2α region, alone or as haplotype with rs2235371, a coding SNP (Val274Ile). 23394314

2014
dbSNP: rs642961
rs642961 		0.010 GeneticVariation BEFREE Association analysis of the entire VWS/PPS sample set revealed the A allele from rs642961 to be a risk allele. 23394314

2014
dbSNP: rs121434229
rs121434229
IRF6
0.010 GeneticVariation BEFREE Novel IRF6 mutations in Japanese patients with Van der Woude syndrome: two missense mutations (R45Q and P396S) and a 17-kb deletion. 14618417

2003
dbSNP: rs121434230
rs121434230
IRF6
0.010 GeneticVariation BEFREE Novel IRF6 mutations in Japanese patients with Van der Woude syndrome: two missense mutations (R45Q and P396S) and a 17-kb deletion. 14618417

2003