Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918488
rs121918488
0.800 GeneticVariation UNIPROT Evidence for digenic inheritance in some cases of Antley-Bixler syndrome? 10633130

2000

dbSNP: rs121918502
rs121918502
0.800 GeneticVariation UNIPROT Evidence for digenic inheritance in some cases of Antley-Bixler syndrome? 10633130

2000

dbSNP: rs121918488
rs121918488
T 0.800 CausalMutation CLINVAR

dbSNP: rs121918488
rs121918488
G 0.800 CausalMutation CLINVAR

dbSNP: rs121918502
rs121918502
C 0.800 CausalMutation CLINVAR

dbSNP: rs1057519044
rs1057519044
T 0.700 GeneticVariation CLINVAR

dbSNP: rs121913478
rs121913478
C 0.700 CausalMutation CLINVAR

dbSNP: rs121918487
rs121918487
T 0.700 CausalMutation CLINVAR

dbSNP: rs121918491
rs121918491
T 0.700 CausalMutation CLINVAR

dbSNP: rs1434545235
rs1434545235
C 0.700 CausalMutation CLINVAR

dbSNP: rs1554927408
rs1554927408
T 0.700 CausalMutation CLINVAR

dbSNP: rs77543610
rs77543610
C 0.700 CausalMutation CLINVAR

dbSNP: rs79184941
rs79184941
C 0.700 CausalMutation CLINVAR

dbSNP: rs1467767754
rs1467767754
POR
0.010 GeneticVariation BEFREE Y459H and V492E mutations of cytochrome P450 reductase (CYPOR) cause Antley-Bixler syndrome due to diminished binding of the FAD cofactor. 18455494

2008

dbSNP: rs28931606
rs28931606
POR
0.010 GeneticVariation BEFREE Y459H and V492E mutations of cytochrome P450 reductase (CYPOR) cause Antley-Bixler syndrome due to diminished binding of the FAD cofactor. 18455494

2008

dbSNP: rs777142423
rs777142423
0.010 GeneticVariation BEFREE Y459H and V492E mutations of cytochrome P450 reductase (CYPOR) cause Antley-Bixler syndrome due to diminished binding of the FAD cofactor. 18455494

2008