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: rs587780228
rs587780228
BRIP1
0.882 0.280 17 61793698 stop gained C/A;G snv 4.0E-06 2.8E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 1.000 2 2016 2017
dbSNP: rs587780228
rs587780228
BRIP1
0.882 0.280 17 61793698 stop gained C/A;G snv 4.0E-06 2.8E-05
CUI: C1836860
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		0.700 1.000 2 2016 2016
dbSNP: rs587781292
rs587781292
BRIP1
0.882 0.280 17 61859868 stop gained C/A;T snv 4.0E-06
CUI: C1836860
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		0.700 1.000 2 2014 2015
dbSNP: rs587781292
rs587781292
BRIP1
0.882 0.280 17 61859868 stop gained C/A;T snv 4.0E-06
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.700 1.000 2 2014 2015
dbSNP: rs587782410
rs587782410
BRIP1
0.882 0.280 17 61685976 stop gained A/C snv 1.2E-05 1.4E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 2 2015 2015
dbSNP: rs730881633
rs730881633
BRIP1
1.000 0.120 17 61801327 stop gained G/A;C snv 8.0E-06
CUI: C1836860
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		0.700 1.000 2 2016 2017
dbSNP: rs730881633
rs730881633
BRIP1
1.000 0.120 17 61801327 stop gained G/A;C snv 8.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 2 2016 2017
dbSNP: rs747604569
rs747604569
BRIP1
0.925 0.280 17 61849152 stop gained G/A;T snv 8.0E-06
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.700 1.000 2 2015 2015
dbSNP: rs780020495
rs780020495
BRIP1
0.882 0.240 17 61780893 stop gained G/A snv 2.0E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 2 2015 2016
dbSNP: rs1257401983
rs1257401983
BRIP1
1.000 0.120 17 61744445 stop gained G/C snv
CUI: C1836860
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		0.700 1.000 1 2017 2017
dbSNP: rs575595017
rs575595017
BRIP1
0.882 0.280 17 61859808 stop gained G/A snv 1.2E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 1 2011 2011
dbSNP: rs587780226
rs587780226
BRIP1
0.882 0.280 17 61799125 stop gained G/A;T snv 1.2E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 1 2015 2015
dbSNP: rs587781292
rs587781292
BRIP1
0.882 0.280 17 61859868 stop gained C/A;T snv 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 1 2015 2015
dbSNP: rs587782410
rs587782410
BRIP1
0.882 0.280 17 61685976 stop gained A/C snv 1.2E-05 1.4E-05
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.700 1.000 1 2015 2015
dbSNP: rs587782574
rs587782574
BRIP1
0.882 0.280 17 61743015 stop gained G/A snv 4.0E-06 1.4E-05
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.700 1.000 1 2014 2014
dbSNP: rs587782574
rs587782574
BRIP1
0.882 0.280 17 61743015 stop gained G/A snv 4.0E-06 1.4E-05
CUI: C1836860
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		0.700 1.000 1 2014 2014
dbSNP: rs747604569
rs747604569
BRIP1
0.925 0.280 17 61849152 stop gained G/A;T snv 8.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 1 2015 2015
dbSNP: rs747604569
rs747604569
BRIP1
0.925 0.280 17 61849152 stop gained G/A;T snv 8.0E-06
CUI: C1836860
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		0.700 1.000 1 2015 2015
dbSNP: rs775171520
rs775171520
BRIP1
0.882 0.280 17 61793727 stop gained C/A;T snv 2.4E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 1 2016 2016
dbSNP: rs775171520
rs775171520
BRIP1
0.882 0.280 17 61793727 stop gained C/A;T snv 2.4E-05
CUI: C1836860
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		0.700 1.000 1 2016 2016
dbSNP: rs775171520
rs775171520
BRIP1
0.882 0.280 17 61793727 stop gained C/A;T snv 2.4E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 1.000 1 2016 2016
dbSNP: rs786203521
rs786203521
BRIP1
0.882 0.280 17 61849195 stop gained -/T delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 1 2015 2015
dbSNP: rs876659533
rs876659533
BRIP1
0.925 0.240 17 61776445 stop gained G/A snv 2.1E-05
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.700 1.000 1 2018 2018
dbSNP: rs876659533
rs876659533
BRIP1
0.925 0.240 17 61776445 stop gained G/A snv 2.1E-05
CUI: C1836860
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		0.700 1.000 1 2018 2018
dbSNP: rs1028347439
rs1028347439
BRIP1
17 61801267 stop gained G/A snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0