TERF2, telomeric repeat binding factor 2, 7014

N. diseases: 125; N. variants: 4
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: rs75086474
rs75086474 		16 69397260 intron variant G/A snv 2.9E-02
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.700 1.000 1 2019 2019
dbSNP: rs3785074
rs3785074 		0.925 0.080 16 69373083 intron variant A/G;T snv 0.31
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2009 2013
dbSNP: rs3785074
rs3785074 		0.925 0.080 16 69373083 intron variant A/G;T snv 0.31
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2009 2013
dbSNP: rs251796
rs251796 		0.882 0.080 16 69361531 intron variant A/G snv 0.31 0.24
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2009 2009
dbSNP: rs251796
rs251796 		0.882 0.080 16 69361531 intron variant A/G snv 0.31 0.24
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2009 2009
dbSNP: rs251796
rs251796 		0.882 0.080 16 69361531 intron variant A/G snv 0.31 0.24
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2009 2009
dbSNP: rs913202196
rs913202196 		1.000 0.040 16 69368452 missense variant C/A;T snv 4.0E-06
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		Nutritional and Metabolic Diseases 0.010 < 0.001 1 2003 2003