Source: ALL

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: rs397507595
rs397507595
BRCA2
1.000 0.080 13 32319167 missense variant A/G snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 1.000 25 1997 2014
dbSNP: rs397507822
rs397507822
BRCA2
1.000 0.080 13 32326584 missense variant C/G;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 1.000 25 1997 2014
dbSNP: rs397507847
rs397507847
BRCA2
1.000 0.080 13 32340739 missense variant A/C;G snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 1.000 25 1997 2014
dbSNP: rs397507873
rs397507873
BRCA2
1.000 0.080 13 32329475 missense variant C/T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 1.000 25 1997 2014
dbSNP: rs397507912
rs397507912
BRCA2
0.882 0.200 13 32355219 stop gained C/G;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 1.000 25 1997 2014
dbSNP: rs80359306
rs80359306
BRCA2
0.827 0.280 13 32333284 frameshift variant A/-;AA delins
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.700 1.000 23 1997 2014
dbSNP: rs41293511
rs41293511
BRCA2
0.763 0.320 13 32363369 missense variant G/A;C snv 7.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 22 2001 2018
dbSNP: rs80359306
rs80359306
BRCA2
0.827 0.280 13 32333284 frameshift variant A/-;AA delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 21 1996 2017
dbSNP: rs397507620
rs397507620
BRCA2
1.000 0.080 13 32336542 missense variant A/G snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 1.000 20 1997 2006
dbSNP: rs397508057
rs397508057
BRCA2
1.000 0.080 13 32319103 missense variant T/C snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 1.000 20 1997 2006
dbSNP: rs398122784
rs398122784
BRCA2
1.000 0.080 13 32339094 missense variant G/A snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 1.000 20 1997 2006
dbSNP: rs80359507
rs80359507
BRCA2
0.882 0.200 13 32339700 frameshift variant AAA/-;A;AA;AAAA;AAAAA delins 2.8E-05
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.700 1.000 20 1997 2016
dbSNP: rs876660828
rs876660828
BRCA2
1.000 0.080 13 32332770 missense variant C/A;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 1.000 20 1997 2006
dbSNP: rs41293511
rs41293511
BRCA2
0.763 0.320 13 32363369 missense variant G/A;C snv 7.0E-06
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.700 1.000 19 2001 2014
dbSNP: rs80359031
rs80359031
BRCA2
0.763 0.320 13 32363190 missense variant A/T snv
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.700 1.000 19 2000 2017
dbSNP: rs80359507
rs80359507
BRCA2
0.882 0.200 13 32339700 frameshift variant AAA/-;A;AA;AAAA;AAAAA delins 2.8E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 19 1997 2016
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: rs80359351
rs80359351
BRCA2
0.851 0.200 13 32337161 frameshift variant ACAA/- delins 2.1E-05
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.700 1.000 17 1998 2015
dbSNP: rs81002836
rs81002836
BRCA2
0.851 0.200 13 32362521 splice acceptor variant A/G;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 17 1999 2016
dbSNP: rs80359152
rs80359152
BRCA2
0.851 0.200 13 32379800 missense variant G/A snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 16 2006 2018
dbSNP: rs80359460
rs80359460
BRCA2
0.925 0.200 13 32338982 frameshift variant A/-;AA delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 16 1999 2016
dbSNP: rs80359550
rs80359550
BRCA2
0.807 0.280 13 32340301 frameshift variant T/- del 1.8E-04
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.700 1.000 16 1996 2016
dbSNP: rs80359550
rs80359550
BRCA2
0.807 0.280 13 32340301 frameshift variant T/- del 1.8E-04
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		0.700 1.000 16 1996 2013
dbSNP: rs81002899
rs81002899
BRCA2
0.851 0.280 13 32326615 splice donor variant T/A;C;G snv
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.700 1.000 16 2000 2016
dbSNP: rs11571658
rs11571658
BRCA2
0.851 0.240 13 32340630 frameshift variant TT/- del 2.8E-05
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.700 1.000 15 1996 2012