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: 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
dbSNP: rs121912293
rs121912293 		0.925 0.120 X 154765465 missense variant T/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
dbSNP: rs121912295
rs121912295 		0.925 0.120 X 154774651 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: rs121912297
rs121912297 		0.925 0.120 X 154765931 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 0.700 0
dbSNP: rs121912298
rs121912298 		0.925 0.120 X 154773144 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: rs121912299
rs121912299 		0.925 0.120 X 154774650 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: rs121912300
rs121912300 		0.925 0.120 X 154773143 missense variant T/C 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: rs121912301
rs121912301 		0.925 0.120 X 154765929 missense variant G/C 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: rs121912302
rs121912302 		0.925 0.120 X 154765480 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: rs121912303
rs121912303 		0.925 0.120 X 154762970 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