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: rs1057519816
rs1057519816
0.763 0.200 17 39711955 missense variant C/A;T snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
0.710 1.000 1 2016 2018
dbSNP: rs1057519816
rs1057519816
0.763 0.200 17 39711955 missense variant C/A;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.710 1.000 1 2012 2014
dbSNP: rs1058808
rs1058808
0.658 0.360 17 39727784 missense variant C/G snv 0.61 0.52
CUI: C0004096
Disease: Asthma
Asthma
0.710 1.000 1 2011 2013
dbSNP: rs121913469
rs121913469
0.763 0.240 17 39723966 missense variant TT/CC mnv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.710 1.000 1 2004 2015
dbSNP: rs28933369
rs28933369
0.925 0.080 17 39724744 missense variant G/A snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.710 1.000 1 2011 2014
dbSNP: rs1136201
rs1136201
0.645 0.280 17 39723335 missense variant A/G;T snv 0.20
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 0.895 38 2000 2018
dbSNP: rs1136201
rs1136201
0.645 0.280 17 39723335 missense variant A/G;T snv 0.20
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.100 0.895 38 2000 2018
dbSNP: rs372043866
rs372043866
0.732 0.240 17 39727965 missense variant G/A;C;T snv 3.2E-05; 2.4E-05; 1.2E-05
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
0.070 1.000 7 2008 2018
dbSNP: rs1136201
rs1136201
0.645 0.280 17 39723335 missense variant A/G;T snv 0.20
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.050 0.600 5 2007 2013
dbSNP: rs1058808
rs1058808
0.658 0.360 17 39727784 missense variant C/G snv 0.61 0.52
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.040 0.750 4 2013 2017
dbSNP: rs1058808
rs1058808
0.658 0.360 17 39727784 missense variant C/G snv 0.61 0.52
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.040 0.750 4 2013 2017
dbSNP: rs372043866
rs372043866
0.732 0.240 17 39727965 missense variant G/A;C;T snv 3.2E-05; 2.4E-05; 1.2E-05
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.040 0.750 4 2014 2019
dbSNP: rs749539903
rs749539903
0.827 0.120 17 39726987 missense variant G/A snv 8.4E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.040 1.000 4 2008 2017
dbSNP: rs749539903
rs749539903
0.827 0.120 17 39726987 missense variant G/A snv 8.4E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.040 1.000 4 2008 2017
dbSNP: rs1136201
rs1136201
0.645 0.280 17 39723335 missense variant A/G;T snv 0.20
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.030 0.667 3 2010 2019
dbSNP: rs1136201
rs1136201
0.645 0.280 17 39723335 missense variant A/G;T snv 0.20
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.030 0.667 3 2010 2019
dbSNP: rs121913468
rs121913468
0.827 0.160 17 39724008 missense variant G/A;C;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.030 1.000 3 2015 2018
dbSNP: rs121913470
rs121913470
0.776 0.200 17 39723967 missense variant T/C;G snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.030 1.000 3 2017 2019
dbSNP: rs121913470
rs121913470
0.776 0.200 17 39723967 missense variant T/C;G snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.030 1.000 3 2017 2019
dbSNP: rs121913471
rs121913471
0.807 0.120 17 39724747 missense variant G/A;C;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.030 1.000 3 2017 2019
dbSNP: rs121913471
rs121913471
0.807 0.120 17 39724747 missense variant G/A;C;T snv
CUI: C1512127
Disease: HER2 gene amplification
HER2 gene amplification
0.030 0.667 3 2016 2017
dbSNP: rs121913471
rs121913471
0.807 0.120 17 39724747 missense variant G/A;C;T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.030 1.000 3 2017 2019
dbSNP: rs372043866
rs372043866
0.732 0.240 17 39727965 missense variant G/A;C;T snv 3.2E-05; 2.4E-05; 1.2E-05
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.030 1.000 3 2006 2016
dbSNP: rs372043866
rs372043866
0.732 0.240 17 39727965 missense variant G/A;C;T snv 3.2E-05; 2.4E-05; 1.2E-05
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.030 1.000 3 2006 2016
dbSNP: rs372043866
rs372043866
0.732 0.240 17 39727965 missense variant G/A;C;T snv 3.2E-05; 2.4E-05; 1.2E-05
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
0.030 1.000 3 2006 2016