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: rs26312
rs26312
0.925 0.080 3 10291174 5 prime UTR variant G/A snv 0.16
CUI: C1861453
Disease: Pseudohyperkalemia Cardiff
Pseudohyperkalemia Cardiff
Nutritional and Metabolic Diseases 0.010 < 0.001 1 2018 2018
dbSNP: rs26312
rs26312
0.925 0.080 3 10291174 5 prime UTR variant G/A snv 0.16
CUI: C0028754
Disease: Obesity
Obesity
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2013 2013
dbSNP: rs26802
rs26802
0.925 0.160 3 10290681 intron variant T/G snv 0.31
CUI: C0028754
Disease: Obesity
Obesity
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2015 2015
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: rs26802
rs26802
0.925 0.160 3 10290681 intron variant T/G snv 0.31
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
Cardiovascular Diseases 0.010 1.000 1 2010 2010
dbSNP: rs27647
rs27647
0.925 0.120 3 10290784 5 prime UTR variant C/T snv 0.67
CUI: C0019196
Disease: Hepatitis C
Hepatitis C
Digestive System Diseases; Infections 0.010 1.000 1 2018 2018
dbSNP: rs27647
rs27647
0.925 0.120 3 10290784 5 prime UTR variant C/T snv 0.67
CUI: C1861453
Disease: Pseudohyperkalemia Cardiff
Pseudohyperkalemia Cardiff
Nutritional and Metabolic Diseases 0.010 < 0.001 1 2018 2018
dbSNP: rs34911341
rs34911341
0.882 0.200 3 10289835 missense variant C/T snv 7.0E-03 7.3E-03
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
Cardiovascular Diseases 0.010 1.000 1 2010 2010
dbSNP: rs34911341
rs34911341
0.882 0.200 3 10289835 missense variant C/T snv 7.0E-03 7.3E-03
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs34911341
rs34911341
0.882 0.200 3 10289835 missense variant C/T snv 7.0E-03 7.3E-03
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: 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: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
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: 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: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
Cardiovascular Diseases 0.010 < 0.001 1 2003 2003
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