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: rs886040948
rs886040948 		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: rs80359035
rs80359035 		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: rs80358711
rs80358711 		0.925 0.200 13 32339244 stop gained C/A;G;T 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 9 2000 2014
dbSNP: rs80359013
rs80359013 		0.882 0.280 13 32362595 stop gained G/A;C 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 9 2002 2016
dbSNP: rs80358972
rs80358972 		0.742 0.480 13 32356472 stop gained C/A;T snv 8.0E-06; 3.2E-05
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		0.700 1.000 8 1997 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: 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: 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: 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: 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: 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: 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: 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
dbSNP: rs80358456
rs80358456 		0.925 0.200 13 32333167 stop gained G/A;C snv 4.0E-06; 8.0E-06
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		0.700 1.000 4 2004 2011
dbSNP: rs80358809
rs80358809 		0.925 0.200 13 32326563 stop gained 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 4 1996 2016
dbSNP: rs80358814
rs80358814 		0.742 0.440 13 32340212 stop gained G/T 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 4 1997 2011
dbSNP: rs80358851
rs80358851 		0.925 0.200 13 32340479 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 2007 2015
dbSNP: rs80358981
rs80358981 		0.827 0.200 13 32356550 stop gained C/T snv 2.0E-05 1.4E-05
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		0.700 1.000 4 1997 2014