DKC1, dyskerin pseudouridine synthase 1, 1736

N. diseases: 168; N. variants: 44
Disease: X-Linked Dyskeratosis Congenita ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28936072
rs28936072
Entrez Id: 1736
Gene Symbol: DKC1
DKC1
CUI: C1148551
Disease:
X-Linked Dyskeratosis Congenita 		0.800 GeneticVariation UNIPROT Clinical utility gene card for: dyskeratosis congenita. 21610750 2011
dbSNP: rs28936072
rs28936072
Entrez Id: 1736
Gene Symbol: DKC1
DKC1
CUI: C1148551
Disease:
X-Linked Dyskeratosis Congenita 		C 0.800 CausalMutation CLINVAR