Disease: 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: rs398123017
rs398123017 		0.851 0.160 20 63693211 stop gained C/A;G;T snv 4.0E-06; 3.2E-05
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 1.000 4 2013 2015
dbSNP: rs201540674
rs201540674 		0.851 0.160 20 63695619 missense variant G/A snv 1.6E-04 7.7E-05
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 1.000 3 2013 2015
dbSNP: rs398123018
rs398123018 		0.925 0.120 20 63693160 missense variant C/A;G;T snv 1.2E-05; 4.0E-06; 4.0E-05
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 1.000 3 2013 2014
dbSNP: rs1555899111
rs1555899111 		1.000 0.120 20 63659506 splice donor 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 1.000 2 2013 2014
dbSNP: rs370343781
rs370343781 		0.882 0.120 20 63687765 missense variant G/T snv 4.9E-05 7.0E-06
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 1.000 2 2013 2013
dbSNP: rs1449687529
rs1449687529 		0.882 0.120 20 63692960 frameshift variant C/- delins 7.0E-06
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 1.000 1 2015 2015
dbSNP: rs373740199
rs373740199 		0.851 0.120 20 63693247 stop gained C/A;T snv 8.0E-06; 7.2E-05
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 1.000 1 2013 2013
dbSNP: rs776744306
rs776744306 		0.882 0.160 20 63690442 splice donor variant G/A;C snv 4.5E-06
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 1.000 1 2015 2015
dbSNP: rs863225129
rs863225129 		0.925 0.160 20 63687936 splice acceptor 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 1.000 1 2015 2015
dbSNP: rs1555814400
rs1555814400 		1.000 0.120 20 63695091 frameshift variant C/- delins
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: rs1555899096
rs1555899096 		1.000 0.120 20 63659451 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: rs1555903332
rs1555903332 		1.000 0.120 20 63679947 splice donor 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