Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137941190
rs137941190
DCPS ; GSEC
T 0.800 GeneticVariation CLINVAR

dbSNP: rs137941190
rs137941190
DCPS ; GSEC
0.800 GeneticVariation UNIPROT

dbSNP: rs137941190
rs137941190
DCPS ; GSEC
T 0.800 CausalMutation CLINVAR

dbSNP: rs1057519083
rs1057519083
DCPS
C 0.700 CausalMutation CLINVAR

dbSNP: rs770528538
rs770528538
DCPS
A 0.700 CausalMutation CLINVAR

dbSNP: rs104893858
rs104893858
PITX2
0.020 GeneticVariation BEFREE The PITX2 T68P ARS mutant protein physically interacts with FoxJ1; however, it cannot activate the FoxJ1 promoter. 18723525

2008
dbSNP: rs104893858
rs104893858
PITX2
0.020 GeneticVariation BEFREE The PITX2 T68P ARS mutation occurs at a protein kinase C phosphorylation site in the homeodomain. 11929847

2002
dbSNP: rs1048060629
rs1048060629
LEF1
0.010 GeneticVariation BEFREE The PITX2 T68P ARS mutant protein physically interacts with FoxJ1; however, it cannot activate the FoxJ1 promoter. 18723525

2008
dbSNP: rs104893860
rs104893860
PITX2
0.010 GeneticVariation BEFREE This newly reported mutant and another ARS C-terminal mutant (W133Stop) both have greater binding than wild-type to the bicoid element. 16498627

2006
dbSNP: rs121909248
rs121909248
PITX2
0.010 GeneticVariation BEFREE A phenotypically less severe ARS mutant (without tooth anomalies), PITX2 R84W, has a similar DNA binding specificity compared to wild-type PITX2 and transactivates the Dlx2 promoter. 11929847

2002
dbSNP: rs104893952
rs104893952
FOXC1
0.010 GeneticVariation BEFREE Direct sequencing of FKHL7 detected a C67T mutation that segregated with the ARS phenotype in this family, but was not detected in over 80 control chromosomes. 10713890

2000