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: rs81002897
rs81002897 		0.882 0.280 13 32326614 splice donor variant G/A;C snv
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		0.700 1.000 6 2003 2015
dbSNP: rs81002899
rs81002899 		0.851 0.280 13 32326615 splice donor variant T/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 2000 2019
dbSNP: rs276174813
rs276174813 		0.925 0.200 13 32333272 frameshift variant CTTAT/- delins
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		0.700 1.000 5 1997 2012
dbSNP: rs276174825
rs276174825 		0.925 0.200 13 32319269 frameshift variant CT/- delins
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		0.700 1.000 5 2004 2015
dbSNP: rs28897756
rs28897756 		0.752 0.440 13 32379913 splice region variant G/A;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 5 2000 2013
dbSNP: rs41293477
rs41293477 		0.851 0.200 13 32337513 stop gained T/G snv 7.0E-06
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		0.700 1.000 5 2004 2014
dbSNP: rs483353072
rs483353072 		0.925 0.200 13 32357886 frameshift variant ATA/NN;TT delins
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		0.700 1.000 5 2003 2012
dbSNP: rs80358427
rs80358427 		0.776 0.280 13 32332877 stop gained A/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 5 2002 2014
dbSNP: rs80358840
rs80358840 		0.925 0.200 13 32340392 stop gained A/G;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 5 2002 2012
dbSNP: rs80359046
rs80359046 		0.925 0.200 13 32363269 stop gained T/A snv
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		0.700 1.000 5 1997 2012
dbSNP: rs80359146
rs80359146 		0.925 0.200 13 32379513 stop gained C/A;G snv
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		0.700 1.000 5 1997 2017
dbSNP: rs80359180
rs80359180 		0.827 0.280 13 32380085 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 5 2003 2014
dbSNP: rs80359212
rs80359212 		0.763 0.320 13 32394814 stop gained C/T snv 1.2E-05 4.2E-05
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		0.700 1.000 5 2000 2014
dbSNP: rs80359499
rs80359499 		0.925 0.200 13 32339592 frameshift variant -/T delins
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		0.700 1.000 5 1998 2015
dbSNP: rs80359659
rs80359659 		0.925 0.200 13 32330987 frameshift variant ACAG/- delins
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		0.700 1.000 5 1996 2013
dbSNP: rs81002798
rs81002798 		0.925 0.200 13 32370558 splice donor variant 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 5 2003 2016
dbSNP: rs81002836
rs81002836 		0.851 0.200 13 32362521 splice acceptor 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 5 2011 2019
dbSNP: rs81002874
rs81002874 		0.925 0.200 13 32363178 splice acceptor variant G/A;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 5 2003 2019
dbSNP: rs81002882
rs81002882 		0.925 0.200 13 32379516 splice donor variant 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 5 2010 2016
dbSNP: rs276174913
rs276174913 		1.000 13 32379431 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 4 2008 2015
dbSNP: rs397507404
rs397507404 		0.763 0.320 13 32370955 splice acceptor variant 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 4 2002 2019
dbSNP: rs397507419
rs397507419 		0.807 0.200 13 32379886 frameshift variant AAAA/-;AAA;AAAAA delins 4.0E-06
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		0.700 1.000 4 2006 2011
dbSNP: rs397515635
rs397515635 		0.925 0.200 13 32332667 frameshift variant -/NNNN;TTAG;TTAT ins 4.0E-06
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		0.700 1.000 4 2006 2016
dbSNP: rs587781629
rs587781629 		0.851 0.200 13 32333388 splice donor variant G/A snv
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		0.700 1.000 4 2014 2016
dbSNP: rs80358435
rs80358435 		0.752 0.440 13 32319154 stop gained G/C;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 4 2001 2013