Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs74315429
rs74315429
SALL4
0.800 GeneticVariation UNIPROT A SALL4 zinc finger missense mutation predicted to result in increased DNA binding affinity is associated with cranial midline defects and mild features of Okihiro syndrome. 16402211

2006
dbSNP: rs74315429
rs74315429
SALL4
0.800 GeneticVariation UNIPROT Okihiro syndrome is caused by SALL4 mutations. 12393809

2002
dbSNP: rs74315429
rs74315429
SALL4
0.800 GeneticVariation UNIPROT Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family. 12395297

2002
dbSNP: rs74315429
rs74315429
SALL4
C 0.800 CausalMutation CLINVAR

dbSNP: rs879255537
rs879255537
SALL4
GC 0.700 CausalMutation CLINVAR Novel frameshift variant in gene SALL4 causing Okihiro syndrome. 26791099

2016
dbSNP: rs1555850961
rs1555850961
SALL4
G 0.700 CausalMutation CLINVAR

dbSNP: rs1568864697
rs1568864697
SALL4
C 0.700 CausalMutation CLINVAR

dbSNP: rs1568865283
rs1568865283
SALL4
GC 0.700 CausalMutation CLINVAR

dbSNP: rs74315424
rs74315424
SALL4
A 0.700 CausalMutation CLINVAR

dbSNP: rs74315425
rs74315425
SALL4
A 0.700 CausalMutation CLINVAR

dbSNP: rs74315426
rs74315426
SALL4
A 0.700 CausalMutation CLINVAR

dbSNP: rs74315427
rs74315427
SALL4
A 0.700 CausalMutation CLINVAR

dbSNP: rs74315428
rs74315428
SALL4
A 0.700 CausalMutation CLINVAR

dbSNP: rs797044509
rs797044509
SALL4
TG 0.700 CausalMutation CLINVAR