DKC1, dyskerin pseudouridine synthase 1, 1736

N. diseases: 168; N. variants: 44
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121912306
rs121912306 		0.925 0.120 X 154765949 missense variant C/T snv
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1557264102
rs1557264102 		1.000 0.120 X 154765938 missense variant A/G snv
CUI: C1148551
Disease: X-Linked Dyskeratosis Congenita
X-Linked Dyskeratosis Congenita 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases 0.700 1.000 1 2018 2018
dbSNP: rs199422243
rs199422243 		1.000 0.120 X 154765486 missense variant A/G snv
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases 0.710 1.000 1 2019 2019
dbSNP: rs199422248
rs199422248 		0.925 0.120 X 154770784 missense variant A/G snv
CUI: C1148551
Disease: X-Linked Dyskeratosis Congenita
X-Linked Dyskeratosis Congenita 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs199422252
rs199422252 		0.925 0.120 X 154774602 missense variant G/A snv
CUI: C1148551
Disease: X-Linked Dyskeratosis Congenita
X-Linked Dyskeratosis Congenita 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs2728726
rs2728726 		0.925 0.120 X 154770804 missense variant C/A;G snv
CUI: C1148551
Disease: X-Linked Dyskeratosis Congenita
X-Linked Dyskeratosis Congenita 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases 0.700 1.000 1 2011 2011
dbSNP: rs28936072
rs28936072 		0.851 0.200 X 154765472 missense variant T/C snv
CUI: C0085110
Disease: Severe Combined Immunodeficiency
Severe Combined Immunodeficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases 0.010 1.000 1 2002 2002
dbSNP: rs28936072
rs28936072 		0.851 0.200 X 154765472 missense variant T/C snv
CUI: C1148551
Disease: X-Linked Dyskeratosis Congenita
X-Linked Dyskeratosis Congenita 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases 0.800 1.000 1 2011 2011
dbSNP: rs28936072
rs28936072 		0.851 0.200 X 154765472 missense variant T/C snv
CUI: C0030312
Disease: Pancytopenia
Pancytopenia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2002 2002
dbSNP: rs1057520719
rs1057520719 		1.000 0.120 X 154773227 missense variant G/A snv
CUI: C1148551
Disease: X-Linked Dyskeratosis Congenita
X-Linked Dyskeratosis Congenita 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1114167422
rs1114167422 		0.776 0.320 X 154773148 missense variant A/G snv
CUI: C0221260
Disease: Dystrophia unguium
Dystrophia unguium 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1114167422
rs1114167422 		0.776 0.320 X 154773148 missense variant A/G snv
CUI: C0011334
Disease: Dental caries
Dental caries 		Stomatognathic Diseases 0.700 0
dbSNP: rs1114167422
rs1114167422 		0.776 0.320 X 154773148 missense variant A/G snv
CUI: C0263498
Disease: Premature canities
Premature canities 		0.700 0
dbSNP: rs1114167422
rs1114167422 		0.776 0.320 X 154773148 missense variant A/G snv
CUI: C0002871
Disease: Anemia
Anemia 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1114167422
rs1114167422 		0.776 0.320 X 154773148 missense variant A/G snv
CUI: C0023532
Disease: Leukoplakia, Oral
Leukoplakia, Oral 		Pathological Conditions, Signs and Symptoms; Neoplasms; Stomatognathic Diseases 0.700 0
dbSNP: rs1114167422
rs1114167422 		0.776 0.320 X 154773148 missense variant A/G snv
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs1114167422
rs1114167422 		0.776 0.320 X 154773148 missense variant A/G snv
CUI: C0022596
Disease: Palmoplantar Keratosis
Palmoplantar Keratosis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs1114167422
rs1114167422 		0.776 0.320 X 154773148 missense variant A/G snv
CUI: C0152227
Disease: Excessive tearing
Excessive tearing 		Eye Diseases 0.700 0
dbSNP: rs1114167422
rs1114167422 		0.776 0.320 X 154773148 missense variant A/G snv
CUI: C0030312
Disease: Pancytopenia
Pancytopenia 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1114167422
rs1114167422 		0.776 0.320 X 154773148 missense variant A/G snv
CUI: C1148551
Disease: X-Linked Dyskeratosis Congenita
X-Linked Dyskeratosis Congenita 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1114167422
rs1114167422 		0.776 0.320 X 154773148 missense variant A/G snv
CUI: C1855710
Disease: Bone marrow hypocellularity
Bone marrow hypocellularity 		0.700 0
dbSNP: rs121912289
rs121912289 		0.925 0.120 X 154774672 missense variant C/T snv
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs121912290
rs121912290 		0.925 0.120 X 154770792 missense variant C/G;T snv
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs121912291
rs121912291 		0.925 0.120 X 154770808 missense variant G/A snv
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs121912292
rs121912292 		0.925 0.120 X 154765478 missense variant C/G snv
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases 0.700 0