Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912288
rs121912288
DKC1 ; SNORA56
0.820 GeneticVariation BEFREE To investigate the effects of pathogenic DKC1 mutations on telomere repair and hematopoietic development, we derived induced pluripotent stem cells (iPSCs) from fibroblasts of a DC patient carrying the most frequent mutation: DKC1 p.A353V. 31479877

2019
dbSNP: rs121912288
rs121912288
DKC1 ; SNORA56
0.820 GeneticVariation UNIPROT Transcriptome-wide mapping reveals widespread dynamic-regulated pseudouridylation of ncRNA and mRNA. 25219674

2014
dbSNP: rs121912288
rs121912288
DKC1 ; SNORA56
0.820 GeneticVariation UNIPROT Hoyeraal-Hreidarsson syndrome with a DKC1 mutation identified by whole-exome sequencing. 24914498

2014
dbSNP: rs121912288
rs121912288
DKC1 ; SNORA56
0.820 GeneticVariation BEFREE Here, we confirm these findings in other primary X-DC patient cell lines coding for the most common (A353V dyskerin) and more clinically severe (K314R and A353V dyskerin) X-DC isoforms. 22058290

2012
dbSNP: rs121912288
rs121912288
DKC1 ; SNORA56
0.820 GeneticVariation UNIPROT Clinical utility gene card for: dyskeratosis congenita. 21610750

2011
dbSNP: rs121912288
rs121912288
DKC1 ; SNORA56
0.820 GeneticVariation UNIPROT Telomere shortening and loss of self-renewal in dyskeratosis congenita induced pluripotent stem cells. 21602826

2011
dbSNP: rs121912288
rs121912288
DKC1 ; SNORA56
0.820 GeneticVariation UNIPROT Novel mutations of the DKC1 gene in individuals affected with dyskeratosis congenita. 19879169

2010
dbSNP: rs121912288
rs121912288
DKC1 ; SNORA56
0.820 GeneticVariation UNIPROT Pathogenic NAP57 mutations decrease ribonucleoprotein assembly in dyskeratosis congenita. 19734544

2009
dbSNP: rs121912288
rs121912288
DKC1 ; SNORA56
0.820 GeneticVariation UNIPROT Identification of a novel mutation in DKC1 in dyskeratosis congenita. 18802941

2009
dbSNP: rs121912288
rs121912288
DKC1 ; SNORA56
0.820 GeneticVariation UNIPROT X-linked dyskeratosis congenita in Malaysia. 17417794

2008
dbSNP: rs121912288
rs121912288
DKC1 ; SNORA56
0.820 GeneticVariation UNIPROT Identification of a novel mutation and a de novo mutation in DKC1 in two Chinese pedigrees with Dyskeratosis congenita. 15304085

2004
dbSNP: rs121912288
rs121912288
DKC1 ; SNORA56
0.820 GeneticVariation UNIPROT A novel DKC1 mutation, severe combined immunodeficiency (T+B-NK- SCID) and bone marrow transplantation in an infant with Hoyeraal-Hreidarsson syndrome. 12437656

2002
dbSNP: rs121912288
rs121912288
DKC1 ; SNORA56
0.820 GeneticVariation UNIPROT Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1. 10583221

1999
dbSNP: rs121912288
rs121912288
DKC1 ; SNORA56
0.820 GeneticVariation UNIPROT X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene. 10364516

1999
dbSNP: rs121912288
rs121912288
DKC1 ; SNORA56
0.820 GeneticVariation UNIPROT X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions. 9590285

1998
dbSNP: rs121912288
rs121912288
DKC1 ; SNORA56
T 0.820 CausalMutation CLINVAR

dbSNP: rs121912292
rs121912292
DKC1
0.800 GeneticVariation UNIPROT Transcriptome-wide mapping reveals widespread dynamic-regulated pseudouridylation of ncRNA and mRNA. 25219674

2014
dbSNP: rs121912293
rs121912293
DKC1
0.800 GeneticVariation UNIPROT Transcriptome-wide mapping reveals widespread dynamic-regulated pseudouridylation of ncRNA and mRNA. 25219674

2014
dbSNP: rs121912294
rs121912294
DKC1
0.800 GeneticVariation UNIPROT Transcriptome-wide mapping reveals widespread dynamic-regulated pseudouridylation of ncRNA and mRNA. 25219674

2014
dbSNP: rs121912295
rs121912295
DKC1 ; SNORA56
0.800 GeneticVariation UNIPROT Transcriptome-wide mapping reveals widespread dynamic-regulated pseudouridylation of ncRNA and mRNA. 25219674

2014
dbSNP: rs121912304
rs121912304
DKC1
0.800 GeneticVariation UNIPROT Instead of the conventional gene-specific approach with Sanger sequencing, we used whole-exome sequencing for the genetic diagnosis of this patient with possible Hoyeraal-Hreidarsson syndrome and successfully identified a missense mutation (c.146C>T, p.Thr49Me) in DKC1. 24914498

2014
dbSNP: rs121912305
rs121912305
DKC1
0.800 GeneticVariation UNIPROT Hoyeraal-Hreidarsson syndrome with a DKC1 mutation identified by whole-exome sequencing. 24914498

2014
dbSNP: rs121912292
rs121912292
DKC1
0.800 GeneticVariation UNIPROT Clinical utility gene card for: dyskeratosis congenita. 21610750

2011
dbSNP: rs121912292
rs121912292
DKC1
0.800 GeneticVariation UNIPROT Telomere shortening and loss of self-renewal in dyskeratosis congenita induced pluripotent stem cells. 21602826

2011
dbSNP: rs121912293
rs121912293
DKC1
0.800 GeneticVariation UNIPROT Clinical utility gene card for: dyskeratosis congenita. 21610750

2011