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: rs397515636
rs397515636
BRCA2
0.882 0.200 13 32338329 frameshift variant -/TGCT delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs41293497
rs41293497
BRCA2
0.724 0.440 13 32340037 stop gained C/A;G;T snv 4.0E-06; 2.0E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs41293513
rs41293513
BRCA2
0.882 0.200 13 32363370 missense variant A/C;G;T snv 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs41293521
rs41293521
BRCA2
0.925 0.160 13 32394724 missense variant T/C snv 2.9E-04 2.5E-04
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs56087561
rs56087561
BRCA2
1.000 0.080 13 32339425 missense variant A/C snv 2.2E-04 2.2E-04
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs56386506
rs56386506
BRCA2
1.000 0.080 13 32338925 missense variant T/G snv 2.4E-05 3.5E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs56403624
rs56403624
BRCA2
1.000 0.080 13 32332863 missense variant A/G;T snv 2.5E-04 2.0E-04
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs587776351
rs587776351
BRCA2
0.925 0.080 13 32370958 stop gained G/A snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs587779358
rs587779358
BRCA2
0.925 0.200 13 32333295 stop gained CGA/TTT mnv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs587779363
rs587779363
BRCA2
0.882 0.200 13 32339550 frameshift variant T/- del
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs587779364
rs587779364
BRCA2
0.882 0.200 13 32339717 frameshift variant -/C delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs587781629
rs587781629
BRCA2
0.851 0.200 13 32333388 splice donor variant G/A snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs690016538
rs690016538
BRCA2
0.925 0.080 13 32331022 frameshift variant -/A delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs690016539
rs690016539
BRCA2
0.925 0.080 13 32337635 stop gained A/C;T snv 4.4E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs690016540
rs690016540
BRCA2
0.925 0.080 13 32337642 frameshift variant -/T delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs690016541
rs690016541
BRCA2
0.925 0.080 13 32337647 frameshift variant A/- delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs690016542
rs690016542
BRCA2
0.925 0.080 13 32337996 frameshift variant T/- del
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs730881601
rs730881601
BRCA2
0.925 0.080 13 32329480 frameshift variant -/GATA delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs730881608
rs730881608
BRCA2
0.925 0.080 13 32338632 frameshift variant C/- del
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs730881611
rs730881611
BRCA2
0.925 0.080 13 32340621 frameshift variant -/GCAT delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs730881612
rs730881612
BRCA2
1.000 0.080 13 32355233 frameshift variant -/G ins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs730881614
rs730881614
BRCA2
0.882 0.200 13 32363179 frameshift variant ATGATACGGAAAT/- delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs730881619
rs730881619
BRCA2
0.882 0.200 13 32398403 frameshift variant -/ATTT delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs730881620
rs730881620
BRCA2
0.925 0.080 13 32338175 frameshift variant AAGA/- del 7.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs754611265
rs754611265
BRCA2
0.882 0.200 13 32346886 frameshift variant -/T delins 7.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0