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
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
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: 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: rs696217
rs696217
0.662 0.640 3 10289773 missense variant G/T snv 8.8E-02 7.1E-02
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X
Nutritional and Metabolic Diseases 0.020 1.000 2 2005 2008
dbSNP: rs1629816
rs1629816
0.851 0.080 3 10294607 non coding transcript exon variant G/A;C snv
CUI: C0278996
Disease: Malignant Head and Neck Neoplasm
Malignant Head and Neck Neoplasm
Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs1629816
rs1629816
0.851 0.080 3 10294607 non coding transcript exon variant G/A;C snv
CUI: C0038362
Disease: Stomatitis
Stomatitis
Stomatognathic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1629816
rs1629816
0.851 0.080 3 10294607 non coding transcript exon variant G/A;C snv
CUI: C1568868
Disease: Oral Mucositis
Oral Mucositis
Stomatognathic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1629816
rs1629816
0.851 0.080 3 10294607 non coding transcript exon variant G/A;C snv
CUI: C3887461
Disease: Head and Neck Carcinoma
Head and Neck Carcinoma
Neoplasms 0.010 1.000 1 2018 2018
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: 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: rs26311
rs26311
1.000 0.080 3 10291242 5 prime UTR variant C/G snv 0.16
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.010 1.000 1 2015 2015
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