TINF2, TERF1 interacting nuclear factor 2, 26277

N. diseases: 158; N. variants: 20
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918544
rs121918544
Entrez Id: 26277
Gene Symbol: TINF2
TINF2
CUI: C1327916
Disease:
REVESZ SYNDROME (disorder) 		0.810 GeneticVariation BEFREE Evidence favoring linkage was found at 2p24 and 14q11.2, and this led to the identification of TINF2 (14q11.2) mutations, K280E, in the proband and her five affected relatives and TINF2 R282H in three additional unrelated DC probands, including one with Revesz syndrome; a fifth DC proband had a R282S mutation. 18252230 2008
dbSNP: rs121918544
rs121918544
Entrez Id: 26277
Gene Symbol: TINF2
TINF2
CUI: C1327916
Disease:
REVESZ SYNDROME (disorder) 		0.810 GeneticVariation UNIPROT Evidence favoring linkage was found at 2p24 and 14q11.2, and this led to the identification of TINF2 (14q11.2) mutations, K280E, in the proband and her five affected relatives and TINF2 R282H in three additional unrelated DC probands, including one with Revesz syndrome; a fifth DC proband had a R282S mutation. 18252230 2008
dbSNP: rs121918544
rs121918544
Entrez Id: 26277
Gene Symbol: TINF2
TINF2
CUI: C1327916
Disease:
REVESZ SYNDROME (disorder) 		T 0.810 CausalMutation CLINVAR
dbSNP: rs121918544
rs121918544
Entrez Id: 26277
Gene Symbol: TINF2
TINF2
CUI: C3151445
Disease:
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3 		T 0.800 CausalMutation CLINVAR Novel variants in Nordic patients referred for genetic testing of telomere-related disorders. 29483670 2018
dbSNP: rs121918543
rs121918543
Entrez Id: 26277
Gene Symbol: TINF2
TINF2
CUI: C3151445
Disease:
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3 		0.800 GeneticVariation UNIPROT TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita. 18252230 2008
dbSNP: rs121918544
rs121918544
Entrez Id: 26277
Gene Symbol: TINF2
TINF2
CUI: C3151445
Disease:
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3 		0.800 GeneticVariation UNIPROT TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita. 18252230 2008
dbSNP: rs121918545
rs121918545
Entrez Id: 26277
Gene Symbol: TINF2
TINF2
CUI: C3151445
Disease:
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3 		0.800 GeneticVariation UNIPROT TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita. 18252230 2008
dbSNP: rs121918543
rs121918543
Entrez Id: 26277
Gene Symbol: TINF2
TINF2
CUI: C3151445
Disease:
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3 		C 0.800 CausalMutation CLINVAR
dbSNP: rs121918545
rs121918545
Entrez Id: 26277
Gene Symbol: TINF2
TINF2
CUI: C3151445
Disease:
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3 		A 0.800 CausalMutation CLINVAR
dbSNP: rs121918545
rs121918545
Entrez Id: 26277
Gene Symbol: TINF2
TINF2
CUI: C3151445
Disease:
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3 		T 0.800 CausalMutation CLINVAR
dbSNP: rs121918543
rs121918543
Entrez Id: 26277
Gene Symbol: TINF2
TINF2
CUI: C0265965
Disease:
Dyskeratosis Congenita 		0.710 GeneticVariation BEFREE Evidence favoring linkage was found at 2p24 and 14q11.2, and this led to the identification of TINF2 (14q11.2) mutations, K280E, in the proband and her five affected relatives and TINF2 R282H in three additional unrelated DC probands, including one with Revesz syndrome; a fifth DC proband had a R282S mutation. 18252230 2008
dbSNP: rs121918545
rs121918545
Entrez Id: 26277
Gene Symbol: TINF2
TINF2
CUI: C0265965
Disease:
Dyskeratosis Congenita 		0.710 GeneticVariation BEFREE Evidence favoring linkage was found at 2p24 and 14q11.2, and this led to the identification of TINF2 (14q11.2) mutations, K280E, in the proband and her five affected relatives and TINF2 R282H in three additional unrelated DC probands, including one with Revesz syndrome; a fifth DC proband had a R282S mutation. 18252230 2008
dbSNP: rs121918543
rs121918543
Entrez Id: 26277
Gene Symbol: TINF2
TINF2
CUI: C0265965
Disease:
Dyskeratosis Congenita 		C 0.710 CausalMutation CLINVAR
dbSNP: rs121918543
rs121918543
Entrez Id: 26277
Gene Symbol: TINF2
TINF2
CUI: C0265965
Disease:
Dyskeratosis Congenita 		A 0.710 CausalMutation CLINVAR
dbSNP: rs121918545
rs121918545
Entrez Id: 26277
Gene Symbol: TINF2
TINF2
CUI: C0265965
Disease:
Dyskeratosis Congenita 		A 0.710 CausalMutation CLINVAR
dbSNP: rs121918545
rs121918545
Entrez Id: 26277
Gene Symbol: TINF2
TINF2
CUI: C0265965
Disease:
Dyskeratosis Congenita 		T 0.710 CausalMutation CLINVAR
dbSNP: rs28372734
rs28372734
Entrez Id: 26277
Gene Symbol: TINF2
TINF2
CUI: C0032181
Disease:
Platelet Count measurement 		0.700 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
dbSNP: rs1060499576
rs1060499576
Entrez Id: 26277
Gene Symbol: TINF2
TINF2
CUI: C3151445
Disease:
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1060499576
rs1060499576
Entrez Id: 26277
Gene Symbol: TINF2
TINF2
CUI: C1327916
Disease:
REVESZ SYNDROME (disorder) 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1566366182
rs1566366182
Entrez Id: 26277
Gene Symbol: TINF2
TINF2
CUI: C0265965
Disease:
Dyskeratosis Congenita 		AG 0.700 CausalMutation CLINVAR
dbSNP: rs199422311
rs199422311
Entrez Id: 26277
Gene Symbol: TINF2
TINF2
CUI: C0265965
Disease:
Dyskeratosis Congenita 		A 0.700 CausalMutation CLINVAR
dbSNP: rs199422311
rs199422311
Entrez Id: 26277
Gene Symbol: TINF2
TINF2
CUI: C0265965
Disease:
Dyskeratosis Congenita 		C 0.700 CausalMutation CLINVAR
dbSNP: rs199422313
rs199422313
Entrez Id: 26277
Gene Symbol: TINF2
TINF2
CUI: C0265965
Disease:
Dyskeratosis Congenita 		T 0.700 CausalMutation CLINVAR
dbSNP: rs199422314
rs199422314
Entrez Id: 26277
Gene Symbol: TINF2
TINF2
CUI: C0265965
Disease:
Dyskeratosis Congenita 		C 0.700 CausalMutation CLINVAR
dbSNP: rs199422315
rs199422315
Entrez Id: 26277
Gene Symbol: TINF2
TINF2
CUI: C0265965
Disease:
Dyskeratosis Congenita 		TG 0.700 CausalMutation CLINVAR