Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1389647533
rs1389647533
RECQL4 ; LRRC14
G 0.700 CausalMutation CLINVAR Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases. 12952869

2003
dbSNP: rs1389647533
rs1389647533
RECQL4 ; LRRC14
G 0.700 CausalMutation CLINVAR Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome. 12734318

2003