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: 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: 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: 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: 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: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.020 1.000 2 2012 2019
dbSNP: rs1800468
rs1800468 		0.851 0.160 19 41354682 3 prime UTR variant C/T snv 6.2E-02 5.9E-02
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1800469
rs1800469 		0.547 0.760 19 41354391 intron variant A/G snv 0.69
CUI: C0019159
Disease: Hepatitis A
Hepatitis A 		Digestive System Diseases; Infections 0.010 1.000 1 2012 2012
dbSNP: rs1800469
rs1800469 		0.547 0.760 19 41354391 intron variant A/G snv 0.69
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.010 1.000 1 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: rs1800468
rs1800468 		0.851 0.160 19 41354682 3 prime UTR variant C/T snv 6.2E-02 5.9E-02
CUI: C0029410
Disease: Osteoarthritis of hip
Osteoarthritis of hip 		Musculoskeletal Diseases 0.010 1.000 1 2013 2013
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
dbSNP: rs1800469
rs1800469 		0.547 0.760 19 41354391 intron variant A/G snv 0.69
CUI: C0266929
Disease: Chronic Periodontitis
Chronic Periodontitis 		Stomatognathic Diseases 0.010 1.000 1 2013 2013
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: 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: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs1800469
rs1800469 		0.547 0.760 19 41354391 intron variant A/G snv 0.69
CUI: C0040761
Disease: Transposition of Great Vessels
Transposition of Great Vessels 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1800469
rs1800469 		0.547 0.760 19 41354391 intron variant A/G snv 0.69
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1800469
rs1800469 		0.547 0.760 19 41354391 intron variant A/G snv 0.69
CUI: C0340291
Disease: Silent myocardial ischemia
Silent myocardial ischemia 		Cardiovascular Diseases 0.010 1.000 1 2014 2014