TBC1D1, TBC1 domain family member 1, 23216

N. diseases: 25; N. variants: 7
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: rs17578878
rs17578878 		1.000 0.040 4 37899104 intron variant C/T snv 7.9E-02
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		Musculoskeletal Diseases 0.700 1.000 1 2012 2012
dbSNP: rs658349
rs658349 		4 38135732 intron variant C/G;T snv
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement 		0.700 1.000 1 2016 2016
dbSNP: rs658349
rs658349 		4 38135732 intron variant C/G;T snv
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs6854169
rs6854169 		4 38132046 intron variant G/A snv 2.4E-02
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs6857857
rs6857857 		4 38127228 intron variant C/A;T snv
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs9968554
rs9968554 		4 37925766 intron variant A/G snv 0.50
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs35859249
rs35859249 		0.807 0.200 4 37902468 missense variant C/A;T snv 4.0E-06; 9.7E-02
CUI: C2937224
Disease: Constitutional obesity
Constitutional obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.030 1.000 3 2008 2018
dbSNP: rs35859249
rs35859249 		0.807 0.200 4 37902468 missense variant C/A;T snv 4.0E-06; 9.7E-02
CUI: C1281440
Disease: Familial obesity
Familial obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.030 1.000 3 2008 2018
dbSNP: rs35859249
rs35859249 		0.807 0.200 4 37902468 missense variant C/A;T snv 4.0E-06; 9.7E-02
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.030 1.000 3 2006 2013
dbSNP: rs35859249
rs35859249 		0.807 0.200 4 37902468 missense variant C/A;T snv 4.0E-06; 9.7E-02
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2013 2013
dbSNP: rs35859249
rs35859249 		0.807 0.200 4 37902468 missense variant C/A;T snv 4.0E-06; 9.7E-02
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs35859249
rs35859249 		0.807 0.200 4 37902468 missense variant C/A;T snv 4.0E-06; 9.7E-02
CUI: C0853897
Disease: Diabetic Cardiomyopathies
Diabetic Cardiomyopathies 		Endocrine System Diseases; Cardiovascular Diseases 0.010 1.000 1 2020 2020
dbSNP: rs58983546
rs58983546 		1.000 0.080 4 38053116 missense variant C/T snv 0.10 0.10
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2016 2016