Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199422241
rs199422241
DKC1
G 0.700 CausalMutation CLINVAR Basal transcription activity of the dyskeratosis congenita gene is mediated by Sp1 and Sp3 and a patient mutation in a Sp1 binding site is associated with decreased promoter activity. 12137939

2002
dbSNP: rs199422241
rs199422241
DKC1
G 0.700 CausalMutation CLINVAR Identification of novel DKC1 mutations in patients with dyskeratosis congenita: implications for pathophysiology and diagnosis. 11379875

2001