B9D2, B9 domain containing 2, 80776

N. diseases: 66; N. variants: 13
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: rs11466313
rs11466313 		1.000 0.120 19 41355432 intron variant -/CTC;CTCATGTCCCTGCCCTCCCTCCTC delins 0.70
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 < 0.001 1 2015 2015
dbSNP: rs1800469
rs1800469 		0.547 0.760 19 41354391 intron variant A/G snv 0.69
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		Digestive System Diseases; Neoplasms 0.710 1.000 4 2011 2016
dbSNP: rs1800469
rs1800469 		0.547 0.760 19 41354391 intron variant A/G snv 0.69
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.040 0.750 4 2012 2019
dbSNP: rs1800469
rs1800469 		0.547 0.760 19 41354391 intron variant A/G snv 0.69
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.040 1.000 4 2004 2017
dbSNP: rs1800469
rs1800469 		0.547 0.760 19 41354391 intron variant A/G snv 0.69
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.810 1.000 4 2014 2018
dbSNP: rs1800469
rs1800469 		0.547 0.760 19 41354391 intron variant A/G snv 0.69
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.040 0.750 4 2012 2019
dbSNP: rs1800469
rs1800469 		0.547 0.760 19 41354391 intron variant A/G snv 0.69
CUI: C0346629
Disease: Malignant neoplasm of large intestine
Malignant neoplasm of large intestine 		Digestive System Diseases; Neoplasms 0.700 1.000 3 2014 2016
dbSNP: rs1800469
rs1800469 		0.547 0.760 19 41354391 intron variant A/G snv 0.69
CUI: C3554460
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 		0.700 1.000 3 2014 2016
dbSNP: rs1800469
rs1800469 		0.547 0.760 19 41354391 intron variant A/G snv 0.69
CUI: C2677123
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 3
COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 		0.700 1.000 3 2014 2016
dbSNP: rs1800469
rs1800469 		0.547 0.760 19 41354391 intron variant A/G snv 0.69
CUI: C1837315
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 		0.700 1.000 3 2014 2016
dbSNP: rs1800469
rs1800469 		0.547 0.760 19 41354391 intron variant A/G snv 0.69
CUI: C2675481
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 10
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 		0.700 1.000 3 2014 2016
dbSNP: rs1800469
rs1800469 		0.547 0.760 19 41354391 intron variant A/G snv 0.69
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		Digestive System Diseases; Neoplasms 0.700 1.000 3 2014 2016
dbSNP: rs1800469
rs1800469 		0.547 0.760 19 41354391 intron variant A/G snv 0.69
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		Digestive System Diseases; Neoplasms 0.700 1.000 3 2014 2016
dbSNP: rs1800469
rs1800469 		0.547 0.760 19 41354391 intron variant A/G snv 0.69
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		Digestive System Diseases; Infections 0.020 1.000 2 2017 2019
dbSNP: rs1800469
rs1800469 		0.547 0.760 19 41354391 intron variant A/G snv 0.69
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.020 1.000 2 2012 2019
dbSNP: rs1800469
rs1800469 		0.547 0.760 19 41354391 intron variant A/G snv 0.69
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.020 1.000 2 2012 2019
dbSNP: rs1800469
rs1800469 		0.547 0.760 19 41354391 intron variant A/G snv 0.69
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.020 1.000 2 2006 2019
dbSNP: rs1800469
rs1800469 		0.547 0.760 19 41354391 intron variant A/G snv 0.69
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.020 1.000 2 2012 2012
dbSNP: rs1800469
rs1800469 		0.547 0.760 19 41354391 intron variant A/G snv 0.69
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.020 0.500 2 2013 2014
dbSNP: rs1800469
rs1800469 		0.547 0.760 19 41354391 intron variant A/G snv 0.69
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.020 1.000 2 2015 2019
dbSNP: rs1800469
rs1800469 		0.547 0.760 19 41354391 intron variant A/G snv 0.69
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.020 1.000 2 2012 2019
dbSNP: rs1800469
rs1800469 		0.547 0.760 19 41354391 intron variant A/G snv 0.69
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs1800469
rs1800469 		0.547 0.760 19 41354391 intron variant A/G snv 0.69
CUI: C0162871
Disease: Aortic Aneurysm, Abdominal
Aortic Aneurysm, Abdominal 		Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1800469
rs1800469 		0.547 0.760 19 41354391 intron variant A/G snv 0.69
CUI: C0220650
Disease: Metastatic malignant neoplasm to brain
Metastatic malignant neoplasm to brain 		Pathological Conditions, Signs and Symptoms; Neoplasms; Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1800469
rs1800469 		0.547 0.760 19 41354391 intron variant A/G snv 0.69
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2013 2013