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: rs696217
rs696217
0.662 0.640 3 10289773 missense variant G/T snv 8.8E-02 7.1E-02
CUI: C0279628
Disease: Adenocarcinoma Of Esophagus
Adenocarcinoma Of Esophagus
Digestive System Diseases; Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs696217
rs696217
0.662 0.640 3 10289773 missense variant G/T snv 8.8E-02 7.1E-02
CUI: C0001956
Disease: Alcohol Use Disorder
Alcohol Use Disorder
Chemically-Induced Disorders; Mental Disorders 0.010 1.000 1 2017 2017
dbSNP: rs4684677
rs4684677
0.742 0.360 3 10286769 missense variant T/A snv 0.10 6.6E-02
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
Nervous System Diseases; Mental Disorders 0.010 1.000 1 2011 2011
dbSNP: rs4684677
rs4684677
0.742 0.360 3 10286769 missense variant T/A snv 0.10 6.6E-02
CUI: C0003125
Disease: Anorexia Nervosa
Anorexia Nervosa
Mental Disorders 0.010 1.000 1 2007 2007
dbSNP: rs696217
rs696217
0.662 0.640 3 10289773 missense variant G/T snv 8.8E-02 7.1E-02
CUI: C0003125
Disease: Anorexia Nervosa
Anorexia Nervosa
Mental Disorders 0.010 1.000 1 2007 2007
dbSNP: rs752298108
rs752298108
1.000 0.040 3 10286806 missense variant C/T snv 4.0E-05 7.0E-06
CUI: C0003125
Disease: Anorexia Nervosa
Anorexia Nervosa
Mental Disorders 0.010 1.000 1 2007 2007
dbSNP: rs696217
rs696217
0.662 0.640 3 10289773 missense variant G/T snv 8.8E-02 7.1E-02
CUI: C0004096
Disease: Asthma
Asthma
Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs171407
rs171407
0.925 0.080 3 10284485 non coding transcript exon variant G/A;C snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
dbSNP: rs2075356
rs2075356
0.882 0.160 3 10287125 non coding transcript exon variant T/C snv 8.3E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
dbSNP: rs4684677
rs4684677
0.742 0.360 3 10286769 missense variant T/A snv 0.10 6.6E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
dbSNP: rs696217
rs696217
0.662 0.640 3 10289773 missense variant G/T snv 8.8E-02 7.1E-02
CUI: C2267227
Disease: Bulimia Nervosa
Bulimia Nervosa
Mental Disorders 0.010 1.000 1 2006 2006
dbSNP: rs696217
rs696217
0.662 0.640 3 10289773 missense variant G/T snv 8.8E-02 7.1E-02
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
Cardiovascular Diseases 0.010 < 0.001 1 2003 2003
dbSNP: rs26802
rs26802
0.925 0.160 3 10290681 intron variant T/G snv 0.31
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs696217
rs696217
0.662 0.640 3 10289773 missense variant G/T snv 8.8E-02 7.1E-02
CUI: C0342257
Disease: Complications of Diabetes Mellitus
Complications of Diabetes Mellitus
Endocrine System Diseases 0.010 1.000 1 2003 2003
dbSNP: rs696217
rs696217
0.662 0.640 3 10289773 missense variant G/T snv 8.8E-02 7.1E-02
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
Cardiovascular Diseases 0.010 1.000 1 2008 2008
dbSNP: rs696217
rs696217
0.662 0.640 3 10289773 missense variant G/T snv 8.8E-02 7.1E-02
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
Cardiovascular Diseases 0.010 1.000 1 2008 2008
dbSNP: rs696217
rs696217
0.662 0.640 3 10289773 missense variant G/T snv 8.8E-02 7.1E-02
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
Cardiovascular Diseases 0.010 1.000 1 2008 2008
dbSNP: rs696217
rs696217
0.662 0.640 3 10289773 missense variant G/T snv 8.8E-02 7.1E-02
CUI: C0344315
Disease: Depressed mood
Depressed mood
Behavior and Behavior Mechanisms 0.010 1.000 1 2017 2017
dbSNP: rs696217
rs696217
0.662 0.640 3 10289773 missense variant G/T snv 8.8E-02 7.1E-02
CUI: C0011581
Disease: Depressive disorder
Depressive disorder
Mental Disorders 0.010 1.000 1 2017 2017
dbSNP: rs696217
rs696217
0.662 0.640 3 10289773 missense variant G/T snv 8.8E-02 7.1E-02
CUI: C0011847
Disease: Diabetes
Diabetes
Endocrine System Diseases 0.020 1.000 2 2006 2012
dbSNP: rs696217
rs696217
0.662 0.640 3 10289773 missense variant G/T snv 8.8E-02 7.1E-02
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.020 1.000 2 2006 2012
dbSNP: rs696217
rs696217
0.662 0.640 3 10289773 missense variant G/T snv 8.8E-02 7.1E-02
Diabetes Mellitus, Non-Insulin-Dependent
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.060 0.500 6 2003 2014
dbSNP: rs4684677
rs4684677
0.742 0.360 3 10286769 missense variant T/A snv 0.10 6.6E-02
Diabetes Mellitus, Non-Insulin-Dependent
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs696217
rs696217
0.662 0.640 3 10289773 missense variant G/T snv 8.8E-02 7.1E-02
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.020 1.000 2 2006 2014
dbSNP: rs4684677
rs4684677
0.742 0.360 3 10286769 missense variant T/A snv 0.10 6.6E-02
CUI: C0242510
Disease: Drug usage
Drug usage
Chemically-Induced Disorders; Mental Disorders 0.010 1.000 1 2013 2013