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: rs28897759
rs28897759
BRCA2
0.851 0.200 13 32394803 missense variant A/G;T snv 4.0E-06; 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.810 1.000 1 2014 2014
dbSNP: rs11571833
rs11571833
BRCA2
0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.750 0.800 5 2014 2018
dbSNP: rs11571833
rs11571833
BRCA2
0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.750 0.857 5 2014 2018
dbSNP: rs11571833
rs11571833
BRCA2
0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.740 0.800 4 2013 2016
dbSNP: rs11571833
rs11571833
BRCA2
0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.740 0.875 4 2013 2017
dbSNP: rs80359065
rs80359065
BRCA2
0.827 0.240 13 32363389 missense variant G/A;T snv 7.9E-04
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.730 1.000 3 2003 2017
dbSNP: rs11571833
rs11571833
BRCA2
0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung 		0.720 1.000 2 2015 2019
dbSNP: rs11571833
rs11571833
BRCA2
0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.720 1.000 2 2014 2018
dbSNP: rs11571833
rs11571833
BRCA2
0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.720 1.000 2 2016 2018
dbSNP: rs11571833
rs11571833
BRCA2
0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung 		0.710 1.000 1 2017 2018
dbSNP: rs11571833
rs11571833
BRCA2
0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.710 1.000 1 2016 2016
dbSNP: rs28897743
rs28897743
BRCA2
0.827 0.280 13 32346896 missense variant G/A;C;T snv 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.710 1.000 1 2020 2020
dbSNP: rs80358755
rs80358755
BRCA2
0.925 0.080 13 32339667 missense variant G/A;T snv 3.4E-04; 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.710 1.000 1 1997 2016
dbSNP: rs80358807
rs80358807
BRCA2
0.763 0.280 13 32340146 stop gained C/T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.710 1.000 1 2017 2017
dbSNP: rs80358814
rs80358814
BRCA2
0.742 0.440 13 32340212 stop gained G/T snv 8.0E-06
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.710 1.000 1 2013 2013
dbSNP: rs80359078
rs80359078
BRCA2
0.882 0.160 13 32370430 missense variant G/A snv 3.2E-05 2.1E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.710 1.000 1 2016 2016
dbSNP: rs80359182
rs80359182
BRCA2
0.925 0.080 13 32319100 missense variant T/C;G snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.710 1.000 1 2019 2019
dbSNP: rs80359198
rs80359198
BRCA2
0.882 0.200 13 32394717 missense variant C/A;G;T snv 4.0E-06; 4.0E-06; 7.6E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.710 1.000 1 1996 1996
dbSNP: rs144848
rs144848
BRCA2
0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.100 0.923 13 2000 2017
dbSNP: rs144848
rs144848
BRCA2
0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.100 0.923 13 2000 2017
dbSNP: rs144848
rs144848
BRCA2
0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.060 1.000 6 2002 2017
dbSNP: rs144848
rs144848
BRCA2
0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.060 1.000 6 2002 2017
dbSNP: rs11571833
rs11571833
BRCA2
0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.050 0.800 5 2014 2018
dbSNP: rs11571833
rs11571833
BRCA2
0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.050 1.000 5 2015 2018
dbSNP: rs11571833
rs11571833
BRCA2
0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.050 1.000 5 2015 2018