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: rs12443621
rs12443621
0.807 0.120 16 52514125 intron variant A/G snv 0.48
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.770 0.875 8 2007 2016
dbSNP: rs8051542
rs8051542
0.925 0.080 16 52500255 intron variant T/C snv 0.61
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.770 0.875 8 2007 2019
dbSNP: rs2193094
rs2193094
1.000 0.080 16 52532542 intron variant T/A;G snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2015 2015
dbSNP: rs4784223
rs4784223
1.000 0.080 16 52541995 intron variant A/G snv 0.32
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2014 2014
dbSNP: rs12443621
rs12443621
0.807 0.120 16 52514125 intron variant A/G snv 0.48
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.070 0.857 7 2009 2016
dbSNP: rs8051542
rs8051542
0.925 0.080 16 52500255 intron variant T/C snv 0.61
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.070 0.857 7 2010 2019
dbSNP: rs1123428
rs1123428
0.925 0.080 16 52543923 intron variant T/A snv 0.51
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.010 < 0.001 1 2014 2014
dbSNP: rs1123428
rs1123428
0.925 0.080 16 52543923 intron variant T/A snv 0.51
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.010 < 0.001 1 2014 2014
dbSNP: rs12443621
rs12443621
0.807 0.120 16 52514125 intron variant A/G snv 0.48
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2016 2016
dbSNP: rs12443621
rs12443621
0.807 0.120 16 52514125 intron variant A/G snv 0.48
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2016 2016
dbSNP: rs12443621
rs12443621
0.807 0.120 16 52514125 intron variant A/G snv 0.48
Oestrogen receptor positive breast cancer
0.010 1.000 1 2010 2010
dbSNP: rs12443621
rs12443621
0.807 0.120 16 52514125 intron variant A/G snv 0.48
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1362548
rs1362548
0.925 0.080 16 52530039 intron variant G/C;T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.010 < 0.001 1 2014 2014
dbSNP: rs1362548
rs1362548
0.925 0.080 16 52530039 intron variant G/C;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.010 < 0.001 1 2014 2014
dbSNP: rs1420546
rs1420546
0.925 0.080 16 52454795 intron variant C/A;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1420546
rs1420546
0.925 0.080 16 52454795 intron variant C/A;T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017
dbSNP: rs201752610
rs201752610
16 52463957 missense variant G/A snv 6.6E-04 8.9E-04
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs4784226
rs4784226
1.000 0.080 16 52549231 upstream gene variant C/T snv 0.20
CUI: C0035258
Disease: Restless Legs Syndrome
Restless Legs Syndrome
Nervous System Diseases; Mental Disorders 0.010 1.000 1 2018 2018
dbSNP: rs9933638
rs9933638
0.882 0.080 16 52505685 intron variant A/G snv 0.41
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2016 2016
dbSNP: rs9933638
rs9933638
0.882 0.080 16 52505685 intron variant A/G snv 0.41
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2016 2016
dbSNP: rs9933638
rs9933638
0.882 0.080 16 52505685 intron variant A/G snv 0.41
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2016 2016
dbSNP: rs9939506
rs9939506
1.000 0.080 16 52494395 intron variant T/C;G snv
CUI: C0028754
Disease: Obesity
Obesity
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2016 2016