Gene: DKC1 ×
Source: UNIPROT ×
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 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: rs121912304
rs121912304
DKC1
0.800 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: rs121912305
rs121912305
DKC1
0.800 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 Clinical utility gene card for: dyskeratosis congenita. 21610750

2011
dbSNP: rs121912292
rs121912292
DKC1
0.800 GeneticVariation UNIPROT Clinical utility gene card for: dyskeratosis congenita. 21610750

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

2011
dbSNP: rs121912294
rs121912294
DKC1
0.800 GeneticVariation UNIPROT Clinical utility gene card for: dyskeratosis congenita. 21610750

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: rs121912287
rs121912287
DKC1
0.700 GeneticVariation UNIPROT Clinical utility gene card for: dyskeratosis congenita. 21610750

2011
dbSNP: rs121912289
rs121912289
DKC1 ; SNORA56
0.700 GeneticVariation UNIPROT Clinical utility gene card for: dyskeratosis congenita. 21610750

2011
dbSNP: rs121912290
rs121912290
DKC1
0.700 GeneticVariation UNIPROT Clinical utility gene card for: dyskeratosis congenita. 21610750

2011
dbSNP: rs121912291
rs121912291
DKC1
0.700 GeneticVariation UNIPROT Clinical utility gene card for: dyskeratosis congenita. 21610750

2011
dbSNP: rs121912296
rs121912296
DKC1
0.700 GeneticVariation UNIPROT Clinical utility gene card for: dyskeratosis congenita. 21610750

2011
dbSNP: rs121912297
rs121912297
DKC1
0.700 GeneticVariation UNIPROT Clinical utility gene card for: dyskeratosis congenita. 21610750

2011
dbSNP: rs121912298
rs121912298
DKC1 ; SNORA56
0.700 GeneticVariation UNIPROT Clinical utility gene card for: dyskeratosis congenita. 21610750

2011
dbSNP: rs121912299
rs121912299
DKC1 ; SNORA56
0.700 GeneticVariation UNIPROT Clinical utility gene card for: dyskeratosis congenita. 21610750

2011
dbSNP: rs121912300
rs121912300
DKC1 ; SNORA56
0.700 GeneticVariation UNIPROT Clinical utility gene card for: dyskeratosis congenita. 21610750

2011
dbSNP: rs121912301
rs121912301
DKC1
0.700 GeneticVariation UNIPROT Clinical utility gene card for: dyskeratosis congenita. 21610750

2011
dbSNP: rs121912302
rs121912302
DKC1
0.700 GeneticVariation UNIPROT Clinical utility gene card for: dyskeratosis congenita. 21610750

2011
dbSNP: rs121912303
rs121912303
DKC1
0.700 GeneticVariation UNIPROT Clinical utility gene card for: dyskeratosis congenita. 21610750

2011
dbSNP: rs121912306
rs121912306
DKC1
0.700 GeneticVariation UNIPROT Clinical utility gene card for: dyskeratosis congenita. 21610750

2011
dbSNP: rs2728726
rs2728726
DKC1
0.700 GeneticVariation UNIPROT Clinical utility gene card for: dyskeratosis congenita. 21610750

2011
dbSNP: rs121912288
rs121912288
DKC1 ; SNORA56
0.820 GeneticVariation UNIPROT Hoyeraal-Hreidarsson syndrome with a DKC1 mutation identified by whole-exome sequencing. 24914498

2014