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: 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: 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: 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
dbSNP: rs1800469
rs1800469 		0.547 0.760 19 41354391 intron variant A/G snv 0.69
CUI: C1853238
Disease: Conotruncal defect
Conotruncal defect 		0.010 1.000 1 2014 2014
dbSNP: rs1800469
rs1800469 		0.547 0.760 19 41354391 intron variant A/G snv 0.69
CUI: C4048329
Disease: Immunosuppression
Immunosuppression 		0.010 1.000 1 2014 2014
dbSNP: rs2241714
rs2241714 		1.000 0.080 19 41363487 missense variant T/A;C snv 0.64
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2014 2014
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: 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: C0031099
Disease: Periodontitis
Periodontitis 		Stomatognathic 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: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		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: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital 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: C0020538
Disease: Hypertensive disease
Hypertensive disease 		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: C0220630
Disease: Adult Liver Carcinoma
Adult Liver Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs1800469
rs1800469 		0.547 0.760 19 41354391 intron variant A/G snv 0.69
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital 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: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine 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: C0279000
Disease: Liver and Intrahepatic Biliary Tract Carcinoma
Liver and Intrahepatic Biliary Tract Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs1800469
rs1800469 		0.547 0.760 19 41354391 intron variant A/G snv 0.69
CUI: C0007766
Disease: Intracranial Aneurysm
Intracranial Aneurysm 		Nervous System Diseases; 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: C0019163
Disease: Hepatitis B
Hepatitis B 		Digestive System Diseases; Infections 0.010 1.000 1 2015 2015
dbSNP: rs1800469
rs1800469 		0.547 0.760 19 41354391 intron variant A/G snv 0.69
CUI: C0345904
Disease: Malignant neoplasm of liver
Malignant neoplasm of liver 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2015 2015