BRCA2, BRCA2 DNA repair associated, 675

N. diseases: 656; N. variants: 3066
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 ×
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: rs1555283322
rs1555283322 		0.882 0.200 13 32337987 frameshift variant A/-;AA delins
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 0
dbSNP: rs397507419
rs397507419 		0.807 0.200 13 32379886 frameshift variant AAAA/-;AAA;AAAAA delins 4.0E-06
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 0
dbSNP: rs431825362
rs431825362 		0.925 0.080 13 32363187 missense variant C/A;T snv 4.0E-06; 4.0E-06
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 0
dbSNP: rs45580035
rs45580035 		0.790 0.240 13 32380043 missense variant C/T snv 1.2E-05
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 0
dbSNP: rs587781629
rs587781629 		0.851 0.200 13 32333388 splice donor variant G/A snv
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 0
dbSNP: rs587781803
rs587781803 		0.851 0.200 13 32341169 frameshift variant AAGAG/- delins
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 0
dbSNP: rs80358981
rs80358981 		0.827 0.200 13 32356550 stop gained C/T snv 2.0E-05 1.4E-05
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 0
dbSNP: rs80359035
rs80359035 		0.882 0.200 13 32363211 stop gained C/A;G;T snv
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 0
dbSNP: rs80359180
rs80359180 		0.827 0.280 13 32380085 stop gained C/A;G;T snv
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 0
dbSNP: rs80359200
rs80359200 		0.752 0.320 13 32394726 stop gained C/A;G snv 8.0E-06
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 0
dbSNP: rs80359351
rs80359351 		0.851 0.200 13 32337161 frameshift variant ACAA/- delins 2.1E-05
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 0
dbSNP: rs80359477
rs80359477 		0.851 0.200 13 32339386 frameshift variant AA/-;A delins
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 0
dbSNP: rs80359484
rs80359484 		0.851 0.200 13 32339483 frameshift variant TGTA/- delins
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 0
dbSNP: rs80359604
rs80359604 		0.763 0.320 13 32329468 frameshift variant GT/- delins
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 0
dbSNP: rs80359705
rs80359705 		0.851 0.200 13 32363499 frameshift variant C/- del 7.0E-06
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 0
dbSNP: rs80359763
rs80359763 		0.851 0.240 13 32394864 frameshift variant GT/- delins
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 0
dbSNP: rs869312759
rs869312759 		0.882 0.200 13 32338043 frameshift variant CT/- delins
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 0
dbSNP: rs869312760
rs869312760 		0.882 0.080 13 32370486 frameshift variant TCGCTTTTCA/- delins
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 0