DKC1, dyskerin pseudouridine synthase 1, 1736

N. diseases: 168; N. variants: 44
Disease: X-Linked Dyskeratosis Congenita ×
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: rs121912288
rs121912288 		0.925 0.120 X 154773152 missense variant C/T 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 0.820 1.000 15 1998 2019
dbSNP: rs121912292
rs121912292 		0.925 0.120 X 154765478 missense variant C/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 0.800 1.000 10 1998 2014
dbSNP: rs121912293
rs121912293 		0.925 0.120 X 154765465 missense variant T/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 0.800 1.000 10 1998 2014
dbSNP: rs121912294
rs121912294 		1.000 0.120 X 154765949 missense variant CT/TA mnv
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 10 1998 2014
dbSNP: rs121912295
rs121912295 		0.925 0.120 X 154774651 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 0.800 1.000 10 1998 2014
dbSNP: rs121912304
rs121912304 		0.925 0.120 X 154765505 missense variant C/T 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 5 1999 2014
dbSNP: rs121912305
rs121912305 		0.925 0.120 X 154766313 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 0.800 1.000 4 1999 2014
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: rs121912287
rs121912287 		1.000 0.120 X 154765525 missense variant CT/TC mnv
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 10 1998 2014
dbSNP: rs121912289
rs121912289 		0.925 0.120 X 154774672 missense variant C/T 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 10 1998 2014
dbSNP: rs121912290
rs121912290 		0.925 0.120 X 154770792 missense variant C/G;T 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 10 1998 2014
dbSNP: rs121912291
rs121912291 		0.925 0.120 X 154770808 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 1.000 10 1998 2014
dbSNP: rs121912296
rs121912296 		0.925 0.120 X 154765474 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 10 1998 2014
dbSNP: rs121912297
rs121912297 		0.925 0.120 X 154765931 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 10 1998 2014
dbSNP: rs121912298
rs121912298 		0.925 0.120 X 154773144 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 1.000 10 1998 2014
dbSNP: rs121912299
rs121912299 		0.925 0.120 X 154774650 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 1.000 10 1998 2014
dbSNP: rs121912300
rs121912300 		0.925 0.120 X 154773143 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 0.700 1.000 10 1998 2014
dbSNP: rs121912301
rs121912301 		0.925 0.120 X 154765929 missense variant G/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 0.700 1.000 10 1998 2014
dbSNP: rs121912302
rs121912302 		0.925 0.120 X 154765480 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 1.000 10 1998 2014
dbSNP: rs121912303
rs121912303 		0.925 0.120 X 154762970 missense variant C/T 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 10 1998 2014
dbSNP: rs121912306
rs121912306 		0.925 0.120 X 154765949 missense variant C/T 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 10 1998 2014
dbSNP: rs199422241
rs199422241 		0.925 0.120 X 154762824 5 prime UTR variant C/G snv 2.3E-03
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 2 2001 2002
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: 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: 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