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: rs1048943
rs1048943 		0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02
CUI: C0085669
Disease: Acute leukemia
Acute leukemia 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs1048943
rs1048943 		0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02
CUI: C0001342
Disease: Acute periodontitis
Acute periodontitis 		Stomatognathic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1048943
rs1048943 		0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02
CUI: C0264490
Disease: Acute respiratory failure
Acute respiratory failure 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Respiratory Tract Diseases 0.010 1.000 1 2013 2013
dbSNP: rs2606345
rs2606345 		0.732 0.360 15 74724835 intron variant C/A snv 0.46
CUI: C0264490
Disease: Acute respiratory failure
Acute respiratory failure 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Respiratory Tract Diseases 0.010 1.000 1 2013 2013
dbSNP: rs4646903
rs4646903 		0.630 0.640 15 74719300 downstream gene variant A/G;T snv 0.18
CUI: C0264490
Disease: Acute respiratory failure
Acute respiratory failure 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Respiratory Tract Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1048943
rs1048943 		0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		Neoplasms 0.010 1.000 1 2006 2006
dbSNP: rs1048943
rs1048943 		0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		Neoplasms 0.030 1.000 3 2002 2008
dbSNP: rs1048943
rs1048943 		0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02
CUI: C0031106
Disease: Aggressive Periodontitis
Aggressive Periodontitis 		Stomatognathic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1048943
rs1048943 		0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02
CUI: C1719495
Disease: Aggressive periodontitis, generalized
Aggressive periodontitis, generalized 		Stomatognathic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs2470893
rs2470893 		0.882 0.160 15 74727108 upstream gene variant C/T snv 0.20
CUI: C0001925
Disease: Albuminuria
Albuminuria 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1048943
rs1048943 		0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02
CUI: C0003467
Disease: Anxiety
Anxiety 		Behavior and Behavior Mechanisms 0.010 1.000 1 2010 2010
dbSNP: rs1048943
rs1048943 		0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1048943
rs1048943 		0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02
CUI: C0740277
Disease: Bile duct carcinoma
Bile duct carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2009 2009
dbSNP: rs2606345
rs2606345 		0.732 0.360 15 74724835 intron variant C/A snv 0.46
CUI: C0740277
Disease: Bile duct carcinoma
Bile duct carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2009 2009
dbSNP: rs1048943
rs1048943 		0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.020 1.000 2 2011 2013
dbSNP: rs779682021
rs779682021 		0.882 0.120 15 74721227 missense variant A/C snv
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2013 2013
dbSNP: rs2470893
rs2470893 		0.882 0.160 15 74727108 upstream gene variant C/T snv 0.20
CUI: C0005845
Disease: Blood urea nitrogen measurement
Blood urea nitrogen measurement 		0.700 1.000 1 2019 2019
dbSNP: rs1048943
rs1048943 		0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02
CUI: C0005967
Disease: Bone neoplasms
Bone neoplasms 		Neoplasms; Musculoskeletal Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1048943
rs1048943 		0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		Neoplasms; Nervous System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs2606345
rs2606345 		0.732 0.360 15 74724835 intron variant C/A snv 0.46
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		Neoplasms; Nervous System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs4646903
rs4646903 		0.630 0.640 15 74719300 downstream gene variant A/G;T snv 0.18
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		Neoplasms; Nervous System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs56343424
rs56343424 		1.000 0.080 15 74720496 missense variant C/A;T snv 2.1E-03; 3.3E-05
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2006 2006
dbSNP: rs770140945
rs770140945 		0.882 0.200 15 74720665 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2006 2006
dbSNP: rs1048943
rs1048943 		0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.080 1.000 8 2001 2016
dbSNP: rs1799814
rs1799814 		0.807 0.160 15 74720646 missense variant G/A;T snv 1.6E-05; 3.1E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.030 1.000 3 2001 2016