BRCA2, BRCA2 DNA repair associated, 675

N. diseases: 656; N. variants: 3066
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs80358650
rs80358650 		0.925 0.200 13 32316463 start lost G/A;T snv
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		0.700 1.000 7 2008 2019
dbSNP: rs80359014
rs80359014 		0.763 0.320 13 32362596 missense variant 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 7 2007 2015
dbSNP: rs80359200
rs80359200 		0.752 0.320 13 32394726 stop gained C/A;G snv 8.0E-06
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		0.700 1.000 7 1998 2016
dbSNP: rs80359306
rs80359306 		0.827 0.280 13 32333284 frameshift variant A/-;AA delins
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		0.700 1.000 7 1996 2012
dbSNP: rs80359328
rs80359328 		0.882 0.240 13 32336684 frameshift variant -/A delins
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		0.700 1.000 7 2003 2016
dbSNP: rs80359439
rs80359439 		0.882 0.200 13 32338634 frameshift variant T/-;TT delins
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		0.700 1.000 7 2001 2014
dbSNP: rs80359543
rs80359543 		0.925 0.200 13 32340203 stop gained AGTT/-;AGTTAGTT delins 7.0E-06
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		0.700 1.000 7 1998 2012
dbSNP: rs80359671
rs80359671 		0.882 0.200 13 32331004 frameshift variant TCAAA/- delins 8.0E-06
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		0.700 1.000 7 1996 2013
dbSNP: rs81002853
rs81002853 		1.000 13 32326240 splice acceptor variant A/C;G snv
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		0.700 1.000 7 2007 2016
dbSNP: rs81002893
rs81002893 		0.925 0.200 13 32376795 splice region variant 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 7 2006 2016
dbSNP: rs28897759
rs28897759 		0.851 0.200 13 32394803 missense variant A/G;T snv 4.0E-06; 4.0E-06
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		0.700 1.000 6 2010 2019
dbSNP: rs45580035
rs45580035 		0.790 0.240 13 32380043 missense variant C/T snv 1.2E-05
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		0.700 1.000 6 2008 2015
dbSNP: rs80358721
rs80358721 		0.724 0.320 13 32339320 stop gained C/A;G;R snv 4.2E-06
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		0.700 1.000 6 2007 2014
dbSNP: rs80358815
rs80358815 		0.925 0.200 13 32340219 stop gained C/A;G;T snv 1.2E-05
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		0.700 1.000 6 2002 2016
dbSNP: rs80358928
rs80358928 		0.925 0.200 13 32354877 stop gained C/T snv 4.0E-06
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		0.700 1.000 6 2002 2017
dbSNP: rs80359277
rs80359277 		0.882 0.200 13 32332779 frameshift variant AAGAAAGA/-;AAGA delins 4.1E-06 3.5E-05
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		0.700 1.000 6 1997 2012
dbSNP: rs80359343
rs80359343 		0.925 0.200 13 32316485 frameshift variant C/- delins
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		0.700 1.000 6 1988 2012
dbSNP: rs80359391
rs80359391 		0.925 0.200 13 32337953 frameshift variant GT/- delins
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		0.700 1.000 6 2002 2015
dbSNP: rs80359406
rs80359406 		0.851 0.200 13 32338209 frameshift variant AAAA/-;A;AA;AAA;AAAAA delins 7.0E-06
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		0.700 1.000 6 2003 2016
dbSNP: rs80359436
rs80359436 		0.925 0.200 13 32338613 frameshift variant G/- del 8.2E-06
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		0.700 1.000 6 1997 2005
dbSNP: rs80359460
rs80359460 		0.925 0.200 13 32338982 frameshift variant A/-;AA delins
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		0.700 1.000 6 1999 2011
dbSNP: rs80359527
rs80359527 		0.925 0.200 13 32340035 stop gained -/A delins
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		0.700 1.000 6 2001 2012
dbSNP: rs80359537
rs80359537 		0.925 0.200 13 32340150 frameshift variant TA/- delins
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		0.700 1.000 6 2002 2015
dbSNP: rs80359605
rs80359605 		0.925 0.200 13 32340946 frameshift variant TG/- del 4.1E-06
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		0.700 1.000 6 2002 2013
dbSNP: rs81002858
rs81002858 		0.925 0.200 13 32326497 splice acceptor variant A/C;G snv
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		0.700 1.000 6 2003 2019