Source: CLINVAR

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: rs886040948
rs886040948
BRCA2
1.000 13 32379735 intron variant T/G snv
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		0.700 0
dbSNP: rs80359013
rs80359013
BRCA2
0.882 0.280 13 32362595 stop gained G/A;C snv 8.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 31 2002 2018
dbSNP: rs80359013
rs80359013
BRCA2
0.882 0.280 13 32362595 stop gained G/A;C snv 8.0E-06
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.700 1.000 23 2002 2019
dbSNP: rs80359035
rs80359035
BRCA2
0.882 0.200 13 32363211 stop gained C/A;G;T snv
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		0.700 1.000 18 2004 2017
dbSNP: rs80359212
rs80359212
BRCA2
0.763 0.320 13 32394814 stop gained C/T snv 1.2E-05 4.2E-05
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.700 1.000 18 1990 2015
dbSNP: rs80358721
rs80358721
BRCA2
0.724 0.320 13 32339320 stop gained C/A;G;R snv 4.2E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 17 2007 2018
dbSNP: rs80358981
rs80358981
BRCA2
0.827 0.200 13 32356550 stop gained C/T snv 2.0E-05 1.4E-05
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.700 1.000 16 1997 2015
dbSNP: rs80358721
rs80358721
BRCA2
0.724 0.320 13 32339320 stop gained C/A;G;R snv 4.2E-06
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.700 1.000 15 2007 2016
dbSNP: rs80358814
rs80358814
BRCA2
0.742 0.440 13 32340212 stop gained G/T snv 8.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 15 1996 2016
dbSNP: rs80359003
rs80359003
BRCA2
0.925 0.200 13 32357881 stop gained G/A snv 8.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 15 2003 2017
dbSNP: rs80359035
rs80359035
BRCA2
0.882 0.200 13 32363211 stop gained C/A;G;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 15 2004 2018
dbSNP: rs41293497
rs41293497
BRCA2
0.724 0.440 13 32340037 stop gained C/A;G;T snv 4.0E-06; 2.0E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 14 2001 2017
dbSNP: rs80358638
rs80358638
BRCA2
0.776 0.280 13 32338277 stop gained G/A;T snv 5.6E-05
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.700 1.000 14 2003 2017
dbSNP: rs80358785
rs80358785
BRCA2
0.790 0.240 13 32340000 stop gained C/A;G snv 1.6E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 14 1999 2017
dbSNP: rs80358972
rs80358972
BRCA2
0.742 0.480 13 32356472 stop gained C/A;T snv 8.0E-06; 3.2E-05
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.700 1.000 14 1997 2013
dbSNP: rs80358785
rs80358785
BRCA2
0.790 0.240 13 32340000 stop gained C/A;G snv 1.6E-05
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.700 1.000 13 2002 2017
dbSNP: rs80358814
rs80358814
BRCA2
0.742 0.440 13 32340212 stop gained G/T snv 8.0E-06
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.700 1.000 13 1997 2017
dbSNP: rs80358824
rs80358824
BRCA2
0.925 0.200 13 32340264 stop gained C/A;G;T snv 4.0E-06
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.700 1.000 13 1997 2016
dbSNP: rs80359159
rs80359159
BRCA2
0.925 0.200 13 32379872 stop gained C/G;T snv 8.0E-06
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.700 1.000 13 2001 2018
dbSNP: rs80359212
rs80359212
BRCA2
0.763 0.320 13 32394814 stop gained C/T snv 1.2E-05 4.2E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 13 2000 2017
dbSNP: rs80358533
rs80358533
BRCA2
0.851 0.200 13 32337185 stop gained A/T snv 8.0E-06 7.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 12 1997 2017
dbSNP: rs80358557
rs80358557
BRCA2
0.763 0.320 13 32337464 stop gained C/A;T snv 4.0E-06; 4.0E-06
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.700 1.000 12 2000 2017
dbSNP: rs80358972
rs80358972
BRCA2
0.742 0.480 13 32356472 stop gained C/A;T snv 8.0E-06; 3.2E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 12 1997 2018
dbSNP: rs80359003
rs80359003
BRCA2
0.925 0.200 13 32357881 stop gained G/A snv 8.0E-06
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.700 1.000 12 2002 2014
dbSNP: rs4987049
rs4987049
BRCA2
0.925 0.200 13 32398437 stop gained C/A;G;T snv 8.0E-06; 8.0E-05
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.700 1.000 11 1996 2014