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: rs171407
rs171407
0.925 0.080 3 10284485 non coding transcript exon variant G/A;C snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
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: rs4684677
rs4684677
0.742 0.360 3 10286769 missense variant T/A snv 0.10 6.6E-02
CUI: C1270972
Disease: Mild cognitive disorder
Mild cognitive disorder
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: C0242510
Disease: Drug usage
Drug usage
Chemically-Induced Disorders; Mental Disorders 0.010 1.000 1 2013 2013
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: rs4684677
rs4684677
0.742 0.360 3 10286769 missense variant T/A snv 0.10 6.6E-02
CUI: C0677607
Disease: Hashimoto Disease
Hashimoto Disease
Endocrine System Diseases 0.010 1.000 1 2015 2015
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: rs4684677
rs4684677
0.742 0.360 3 10286769 missense variant T/A snv 0.10 6.6E-02
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 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: 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: 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: C0040128
Disease: Thyroid Diseases
Thyroid Diseases
Endocrine System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs4684677
rs4684677
0.742 0.360 3 10286769 missense variant T/A snv 0.10 6.6E-02
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X
Nutritional and Metabolic Diseases 0.010 1.000 1 2005 2005
dbSNP: rs4684677
rs4684677
0.742 0.360 3 10286769 missense variant T/A snv 0.10 6.6E-02
CUI: C0030319
Disease: Panic Disorder
Panic Disorder
Mental Disorders 0.010 1.000 1 2013 2013
dbSNP: rs4684677
rs4684677
0.742 0.360 3 10286769 missense variant T/A snv 0.10 6.6E-02
CUI: C0028754
Disease: Obesity
Obesity
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.710 < 0.001 1 2009 2009
dbSNP: rs4684677
rs4684677
0.742 0.360 3 10286769 missense variant T/A snv 0.10 6.6E-02
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
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: rs2075356
rs2075356
0.882 0.160 3 10287125 non coding transcript exon variant T/C snv 8.3E-02
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
dbSNP: rs2075356
rs2075356
0.882 0.160 3 10287125 non coding transcript exon variant T/C snv 8.3E-02
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
Neoplasms 0.010 1.000 1 2014 2014
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: rs2075356
rs2075356
0.882 0.160 3 10287125 non coding transcript exon variant T/C snv 8.3E-02
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs2075356
rs2075356
0.882 0.160 3 10287125 non coding transcript exon variant T/C snv 8.3E-02
CUI: C0028754
Disease: Obesity
Obesity
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2013 2013
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: rs696217
rs696217
0.662 0.640 3 10289773 missense variant G/T snv 8.8E-02 7.1E-02
CUI: C0028754
Disease: Obesity
Obesity
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.050 1.000 5 2005 2019
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
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
Cardiovascular Diseases 0.020 < 0.001 2 2006 2008