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: rs745805222
rs745805222
0.790 0.120 12 102475722 synonymous variant C/T snv 1.2E-05 4.9E-05
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
0.100 1.000 11 2007 2018
dbSNP: rs35767
rs35767
0.763 0.360 12 102481791 upstream gene variant A/C;G;T snv
Diabetes Mellitus, Non-Insulin-Dependent
0.050 0.800 5 2012 2018
dbSNP: rs35767
rs35767
0.763 0.360 12 102481791 upstream gene variant A/C;G;T snv
CUI: C0029456
Disease: Osteoporosis
Osteoporosis
0.040 1.000 4 2015 2018
dbSNP: rs6214
rs6214
0.672 0.400 12 102399791 3 prime UTR variant C/T snv 0.45
CUI: C0271183
Disease: Severe myopia
Severe myopia
0.040 0.500 4 2011 2017
dbSNP: rs6214
rs6214
0.672 0.400 12 102399791 3 prime UTR variant C/T snv 0.45
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.030 1.000 3 2010 2014
dbSNP: rs6220
rs6220
0.925 0.080 12 102400737 3 prime UTR variant G/A snv 0.67
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.030 0.667 3 2011 2018
dbSNP: rs6220
rs6220
0.925 0.080 12 102400737 3 prime UTR variant G/A snv 0.67
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.030 0.667 3 2011 2018
dbSNP: rs745410279
rs745410279
0.925 0.200 12 102478498 missense variant T/C snv 4.1E-06
Noonan-Like Syndrome With Loose Anagen Hair
0.030 1.000 3 2012 2015
dbSNP: rs35767
rs35767
0.763 0.360 12 102481791 upstream gene variant A/C;G;T snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.020 1.000 2 2010 2018
dbSNP: rs35767
rs35767
0.763 0.360 12 102481791 upstream gene variant A/C;G;T snv
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.020 1.000 2 2014 2015
dbSNP: rs35767
rs35767
0.763 0.360 12 102481791 upstream gene variant A/C;G;T snv
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
0.020 1.000 2 2014 2015
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: rs6214
rs6214
0.672 0.400 12 102399791 3 prime UTR variant C/T snv 0.45
CUI: C0027092
Disease: Myopia
Myopia
0.020 1.000 2 2011 2016
dbSNP: rs6220
rs6220
0.925 0.080 12 102400737 3 prime UTR variant G/A snv 0.67
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.020 1.000 2 2013 2018
dbSNP: rs6220
rs6220
0.925 0.080 12 102400737 3 prime UTR variant G/A snv 0.67
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.020 1.000 2 2013 2018
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: rs1239905891
rs1239905891
0.925 0.080 12 102475786 missense variant G/A;T snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.010 1.000 1 2008 2008
dbSNP: rs1239905891
rs1239905891
0.925 0.080 12 102475786 missense variant G/A;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.010 1.000 1 2008 2008
dbSNP: rs1239905891
rs1239905891
0.925 0.080 12 102475786 missense variant G/A;T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.010 1.000 1 2008 2008
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