TINF2, TERF1 interacting nuclear factor 2, 26277

N. diseases: 158; N. variants: 20
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: rs121918544
rs121918544 		0.827 0.200 14 24240635 missense variant C/T snv
CUI: C3151445
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3 		0.800 1.000 2 2008 2018
dbSNP: rs121918544
rs121918544 		0.827 0.200 14 24240635 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 0.020 1.000 2 2008 2015
dbSNP: rs121918544
rs121918544 		0.827 0.200 14 24240635 missense variant C/T snv
CUI: C1327916
Disease: REVESZ SYNDROME (disorder)
REVESZ SYNDROME (disorder) 		Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.810 1.000 1 2008 2008
dbSNP: rs121918543
rs121918543 		0.882 0.200 14 24240642 stop gained T/A;C snv
CUI: C3151445
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3 		0.800 1.000 1 2008 2008
dbSNP: rs121918545
rs121918545 		0.925 0.120 14 24240636 missense variant G/A;T snv
CUI: C3151445
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3 		0.800 1.000 1 2008 2008
dbSNP: rs121918543
rs121918543 		0.882 0.200 14 24240642 stop gained T/A;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 0.710 1.000 1 2008 2008
dbSNP: rs121918545
rs121918545 		0.925 0.120 14 24240636 missense variant G/A;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 0.710 1.000 1 2008 2008
dbSNP: rs28372734
rs28372734 		14 24242592 5 prime UTR variant C/G;T snv
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.700 1.000 1 2018 2018
dbSNP: rs121918543
rs121918543 		0.882 0.200 14 24240642 stop gained T/A;C snv
CUI: C1327916
Disease: REVESZ SYNDROME (disorder)
REVESZ SYNDROME (disorder) 		Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.010 1.000 1 2008 2008
dbSNP: rs121918544
rs121918544 		0.827 0.200 14 24240635 missense variant C/T snv
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs121918544
rs121918544 		0.827 0.200 14 24240635 missense variant C/T snv
CUI: C0030312
Disease: Pancytopenia
Pancytopenia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs121918544
rs121918544 		0.827 0.200 14 24240635 missense variant C/T snv
CUI: C0004134
Disease: Ataxia
Ataxia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs121918544
rs121918544 		0.827 0.200 14 24240635 missense variant C/T snv
CUI: C1851970
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs1060499576
rs1060499576 		0.925 0.080 14 24242252 stop gained G/T snv
CUI: C1327916
Disease: REVESZ SYNDROME (disorder)
REVESZ SYNDROME (disorder) 		Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs1060499576
rs1060499576 		0.925 0.080 14 24242252 stop gained G/T snv
CUI: C3151445
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3 		0.700 0
dbSNP: rs1566366182
rs1566366182 		1.000 0.120 14 24240301 frameshift variant -/G 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: rs199422311
rs199422311 		1.000 0.120 14 24240633 missense variant G/A;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: rs199422313
rs199422313 		1.000 0.120 14 24240632 missense variant 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: rs199422314
rs199422314 		1.000 0.120 14 24240630 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: rs199422315
rs199422315 		1.000 0.120 14 24240630 frameshift variant -/G 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: rs199422316
rs199422316 		1.000 0.120 14 24240620 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: rs199422317
rs199422317 		1.000 0.120 14 24240618 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: rs199422318
rs199422318 		1.000 0.120 14 24240614 missense variant GG/CT mnv
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: rs199422319
rs199422319 		1.000 0.120 14 24240609 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: rs199422320
rs199422320 		1.000 0.120 14 24240588 frameshift variant G/- 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