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: 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
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: rs3732950
rs3732950
3 10293297 non coding transcript exon variant G/A snv 4.9E-02
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement
0.700 1.000 1 2012 2012
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: rs34911341
rs34911341
0.882 0.200 3 10289835 missense variant C/T snv 7.0E-03 7.3E-03
CUI: C0028754
Disease: Obesity
Obesity
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.710 1.000 1 2002 2002
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