TBP, TATA-box binding protein, 6908

N. diseases: 158; N. variants: 3
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: rs12717
rs12717 		0.925 0.160 6 170553212 missense variant G/C snv 0.42 0.38
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs12717
rs12717 		0.925 0.160 6 170553212 missense variant G/C snv 0.42 0.38
CUI: C0024301
Disease: Lymphoma, Follicular
Lymphoma, Follicular 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs147582772
rs147582772 		1.000 0.120 6 170569765 synonymous variant C/T snv 1.6E-05 1.4E-05
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2005 2005
dbSNP: rs746303115
rs746303115 		0.925 0.200 6 170561827 missense variant A/G snv 1.2E-05
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs746303115
rs746303115 		0.925 0.200 6 170561827 missense variant A/G snv 1.2E-05
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs746303115
rs746303115 		0.925 0.200 6 170561827 missense variant A/G snv 1.2E-05
CUI: C0206245
Disease: Amyloid Neuropathies, Familial
Amyloid Neuropathies, Familial 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2019 2019