Gene: DKC1 ×
Source: UNIPROT ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912295
rs121912295
DKC1 ; SNORA56
0.800 GeneticVariation UNIPROT Telomere shortening and loss of self-renewal in dyskeratosis congenita induced pluripotent stem cells. 21602826

2011
dbSNP: rs121912295
rs121912295
DKC1 ; SNORA56
0.800 GeneticVariation UNIPROT Clinical utility gene card for: dyskeratosis congenita. 21610750

2011
dbSNP: rs121912304
rs121912304
DKC1
0.800 GeneticVariation UNIPROT Clinical utility gene card for: dyskeratosis congenita. 21610750

2011
dbSNP: rs28936072
rs28936072
DKC1
0.800 GeneticVariation UNIPROT Clinical utility gene card for: dyskeratosis congenita. 21610750

2011
dbSNP: rs121912292
rs121912292
DKC1
0.800 GeneticVariation UNIPROT Novel mutations of the DKC1 gene in individuals affected with dyskeratosis congenita. 19879169

2010
dbSNP: rs121912293
rs121912293
DKC1
0.800 GeneticVariation UNIPROT Novel mutations of the DKC1 gene in individuals affected with dyskeratosis congenita. 19879169

2010
dbSNP: rs121912294
rs121912294
DKC1
0.800 GeneticVariation UNIPROT Novel mutations of the DKC1 gene in individuals affected with dyskeratosis congenita. 19879169

2010
dbSNP: rs121912295
rs121912295
DKC1 ; SNORA56
0.800 GeneticVariation UNIPROT Novel mutations of the DKC1 gene in individuals affected with dyskeratosis congenita. 19879169

2010
dbSNP: rs121912292
rs121912292
DKC1
0.800 GeneticVariation UNIPROT Pathogenic NAP57 mutations decrease ribonucleoprotein assembly in dyskeratosis congenita. 19734544

2009
dbSNP: rs121912292
rs121912292
DKC1
0.800 GeneticVariation UNIPROT Identification of a novel mutation in DKC1 in dyskeratosis congenita. 18802941

2009
dbSNP: rs121912293
rs121912293
DKC1
0.800 GeneticVariation UNIPROT Pathogenic NAP57 mutations decrease ribonucleoprotein assembly in dyskeratosis congenita. 19734544

2009
dbSNP: rs121912293
rs121912293
DKC1
0.800 GeneticVariation UNIPROT Identification of a novel mutation in DKC1 in dyskeratosis congenita. 18802941

2009
dbSNP: rs121912294
rs121912294
DKC1
0.800 GeneticVariation UNIPROT Pathogenic NAP57 mutations decrease ribonucleoprotein assembly in dyskeratosis congenita. 19734544

2009
dbSNP: rs121912294
rs121912294
DKC1
0.800 GeneticVariation UNIPROT Identification of a novel mutation in DKC1 in dyskeratosis congenita. 18802941

2009
dbSNP: rs121912295
rs121912295
DKC1 ; SNORA56
0.800 GeneticVariation UNIPROT Pathogenic NAP57 mutations decrease ribonucleoprotein assembly in dyskeratosis congenita. 19734544

2009
dbSNP: rs121912295
rs121912295
DKC1 ; SNORA56
0.800 GeneticVariation UNIPROT Identification of a novel mutation in DKC1 in dyskeratosis congenita. 18802941

2009
dbSNP: rs121912304
rs121912304
DKC1
0.800 GeneticVariation UNIPROT Pathogenic NAP57 mutations decrease ribonucleoprotein assembly in dyskeratosis congenita. 19734544

2009
dbSNP: rs121912305
rs121912305
DKC1
0.800 GeneticVariation UNIPROT Pathogenic NAP57 mutations decrease ribonucleoprotein assembly in dyskeratosis congenita. 19734544

2009
dbSNP: rs121912292
rs121912292
DKC1
0.800 GeneticVariation UNIPROT X-linked dyskeratosis congenita in Malaysia. 17417794

2008
dbSNP: rs121912293
rs121912293
DKC1
0.800 GeneticVariation UNIPROT X-linked dyskeratosis congenita in Malaysia. 17417794

2008
dbSNP: rs121912294
rs121912294
DKC1
0.800 GeneticVariation UNIPROT X-linked dyskeratosis congenita in Malaysia. 17417794

2008
dbSNP: rs121912295
rs121912295
DKC1 ; SNORA56
0.800 GeneticVariation UNIPROT X-linked dyskeratosis congenita in Malaysia. 17417794

2008
dbSNP: rs121912292
rs121912292
DKC1
0.800 GeneticVariation UNIPROT Identification of a novel mutation and a de novo mutation in DKC1 in two Chinese pedigrees with Dyskeratosis congenita. 15304085

2004
dbSNP: rs121912293
rs121912293
DKC1
0.800 GeneticVariation UNIPROT Identification of a novel mutation and a de novo mutation in DKC1 in two Chinese pedigrees with Dyskeratosis congenita. 15304085

2004
dbSNP: rs121912294
rs121912294
DKC1
0.800 GeneticVariation UNIPROT Identification of a novel mutation and a de novo mutation in DKC1 in two Chinese pedigrees with Dyskeratosis congenita. 15304085

2004