Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs5742612
rs5742612
0.752 0.440 12 102481086 intron variant A/G snv 5.6E-02
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
0.020 1.000 2 2013 2017
dbSNP: rs7136446
rs7136446
0.882 0.160 12 102444737 intron variant C/T snv 0.66
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.020 0.500 2 2011 2017
dbSNP: rs7136446
rs7136446
0.882 0.160 12 102444737 intron variant C/T snv 0.66
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.020 0.500 2 2011 2017
dbSNP: rs12423791
rs12423791
0.925 0.040 12 102465050 intron variant G/C snv 2.8E-02
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.010 1.000 1 2013 2013
dbSNP: rs12423791
rs12423791
0.925 0.040 12 102465050 intron variant G/C snv 2.8E-02
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.010 1.000 1 2013 2013
dbSNP: rs12423791
rs12423791
0.925 0.040 12 102465050 intron variant G/C snv 2.8E-02
CUI: C0027092
Disease: Myopia
Myopia
0.010 1.000 1 2012 2012
dbSNP: rs12423791
rs12423791
0.925 0.040 12 102465050 intron variant G/C snv 2.8E-02
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 1.000 1 2016 2016
dbSNP: rs12423791
rs12423791
0.925 0.040 12 102465050 intron variant G/C snv 2.8E-02
CUI: C0271183
Disease: Severe myopia
Severe myopia
0.010 < 0.001 1 2015 2015
dbSNP: rs1520220
rs1520220
0.807 0.280 12 102402744 intron variant G/C;T snv 0.76
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.010 < 0.001 1 2018 2018
dbSNP: rs1520220
rs1520220
0.807 0.280 12 102402744 intron variant G/C;T snv 0.76
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.010 1.000 1 2018 2018
dbSNP: rs1520220
rs1520220
0.807 0.280 12 102402744 intron variant G/C;T snv 0.76
CUI: C0011847
Disease: Diabetes
Diabetes
0.010 1.000 1 2012 2012
dbSNP: rs1520220
rs1520220
0.807 0.280 12 102402744 intron variant G/C;T snv 0.76
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.010 < 0.001 1 2018 2018
dbSNP: rs1520220
rs1520220
0.807 0.280 12 102402744 intron variant G/C;T snv 0.76
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.010 1.000 1 2012 2012
dbSNP: rs1520220
rs1520220
0.807 0.280 12 102402744 intron variant G/C;T snv 0.76
CUI: C0017661
Disease: IGA Glomerulonephritis
IGA Glomerulonephritis
0.010 1.000 1 2018 2018
dbSNP: rs1520220
rs1520220
0.807 0.280 12 102402744 intron variant G/C;T snv 0.76
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.010 1.000 1 2018 2018
dbSNP: rs1520220
rs1520220
0.807 0.280 12 102402744 intron variant G/C;T snv 0.76
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma
0.010 1.000 1 2011 2011
dbSNP: rs1520220
rs1520220
0.807 0.280 12 102402744 intron variant G/C;T snv 0.76
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
0.010 1.000 1 2011 2011
dbSNP: rs2072592
rs2072592
0.925 0.120 12 102419854 intron variant C/T snv 2.8E-02
CUI: C0007785
Disease: Cerebral Infarction
Cerebral Infarction
0.010 1.000 1 2012 2012
dbSNP: rs2072592
rs2072592
0.925 0.120 12 102419854 intron variant C/T snv 2.8E-02
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
0.010 1.000 1 2010 2010
dbSNP: rs2162679
rs2162679
0.851 0.240 12 102477481 intron variant C/G;T snv
CUI: C0007785
Disease: Cerebral Infarction
Cerebral Infarction
0.010 1.000 1 2012 2012
dbSNP: rs2162679
rs2162679
0.851 0.240 12 102477481 intron variant C/G;T snv
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.010 1.000 1 2019 2019
dbSNP: rs2162679
rs2162679
0.851 0.240 12 102477481 intron variant C/G;T snv
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
0.010 1.000 1 2010 2010
dbSNP: rs2162679
rs2162679
0.851 0.240 12 102477481 intron variant C/G;T snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.010 1.000 1 2019 2019
dbSNP: rs2162679
rs2162679
0.851 0.240 12 102477481 intron variant C/G;T snv
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas
0.010 1.000 1 2019 2019
dbSNP: rs2162679
rs2162679
0.851 0.240 12 102477481 intron variant C/G;T snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.010 1.000 1 2019 2019