DKC1, dyskerin pseudouridine synthase 1, 1736

N. diseases: 168; N. variants: 44
Disease: Dyskeratosis Congenita ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199422249
rs199422249
Entrez Id: 1736;677835
Gene Symbol: DKC1;SNORA56
DKC1;SNORA56
CUI: C0265965
Disease:
Dyskeratosis Congenita 		A 0.700 CausalMutation CLINVAR