Source: CLINVAR

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: rs1064793887
rs1064793887
BRIP1
0.925 0.240 17 61743135 splice acceptor variant C/T snv
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.700 0
dbSNP: rs1064794890
rs1064794890
BRIP1
1.000 0.120 17 61857194 frameshift variant T/- delins
CUI: C1836860
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		0.700 0
dbSNP: rs1064795352
rs1064795352
BRIP1
17 61715995 stop gained C/T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1064795649
rs1064795649
BRIP1
1.000 0.120 17 61799205 frameshift variant CT/- delins
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.700 0
dbSNP: rs1064795649
rs1064795649
BRIP1
1.000 0.120 17 61799205 frameshift variant CT/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1257401983
rs1257401983
BRIP1
1.000 0.120 17 61744445 stop gained G/C snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.700 0
dbSNP: rs1257401983
rs1257401983
BRIP1
1.000 0.120 17 61744445 stop gained G/C snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1304655615
rs1304655615
BRIP1
0.925 0.200 17 61799278 stop gained G/A snv 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs1304655615
rs1304655615
BRIP1
0.925 0.200 17 61799278 stop gained G/A snv 4.0E-06
CUI: C1836860
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		0.700 0
dbSNP: rs1310861578
rs1310861578
BRIP1
1.000 0.120 17 61744463 stop gained -/TAC delins 4.0E-06
CUI: C1836860
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		0.700 0
dbSNP: rs1339743866
rs1339743866
BRIP1
0.925 0.200 17 61784303 frameshift variant -/T delins 7.0E-06
CUI: C1836860
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		0.700 0
dbSNP: rs1339743866
rs1339743866
BRIP1
0.925 0.200 17 61784303 frameshift variant -/T delins 7.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs1342519012
rs1342519012
BRIP1
1.000 0.080 17 61683974 frameshift variant C/- delins 8.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs137852986
rs137852986
BRIP1
0.732 0.440 17 61716051 stop gained G/A snv 1.7E-04 1.5E-04
CUI: C0007124
Disease: Noninfiltrating Intraductal Carcinoma
Noninfiltrating Intraductal Carcinoma 		0.700 0
dbSNP: rs137852986
rs137852986
BRIP1
0.732 0.440 17 61716051 stop gained G/A snv 1.7E-04 1.5E-04
CUI: C1861028
Disease: Esophageal atresia with or without tracheoesophageal fistula
Esophageal atresia with or without tracheoesophageal fistula 		0.700 0
dbSNP: rs137852986
rs137852986
BRIP1
0.732 0.440 17 61716051 stop gained G/A snv 1.7E-04 1.5E-04
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.700 0
dbSNP: rs137852986
rs137852986
BRIP1
0.732 0.440 17 61716051 stop gained G/A snv 1.7E-04 1.5E-04
CUI: C4016951
Disease: BREAST CANCER, EARLY-ONSET
BREAST CANCER, EARLY-ONSET 		0.700 0
dbSNP: rs1400202829
rs1400202829
BRIP1
17 61776456 frameshift variant CAAAA/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs140233356
rs140233356
BRIP1
0.925 0.240 17 61685911 stop gained G/A;C snv 4.0E-06; 2.8E-04
CUI: C1836860
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		0.700 0
dbSNP: rs140233356
rs140233356
BRIP1
0.925 0.240 17 61685911 stop gained G/A;C snv 4.0E-06; 2.8E-04
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.700 0
dbSNP: rs1436085018
rs1436085018
BRIP1
0.925 0.200 17 61801454 stop gained A/C snv 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs1436085018
rs1436085018
BRIP1
0.925 0.200 17 61801454 stop gained A/C snv 4.0E-06
CUI: C1836860
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		0.700 0
dbSNP: rs1437158047
rs1437158047
BRIP1
17 61857057 splice donor variant C/G;T snv 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1483527885
rs1483527885
BRIP1
0.925 0.200 17 61715978 frameshift variant -/A delins 1.4E-05
CUI: C1836860
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		0.700 0
dbSNP: rs1483527885
rs1483527885
BRIP1
0.925 0.200 17 61715978 frameshift variant -/A delins 1.4E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0