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: rs137852986
rs137852986
BRIP1
0.732 0.440 17 61716051 stop gained G/A snv 1.7E-04 1.5E-04
CUI: C1836860
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		0.700 1.000 18 2005 2018
dbSNP: rs137852986
rs137852986
BRIP1
0.732 0.440 17 61716051 stop gained G/A snv 1.7E-04 1.5E-04
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.700 1.000 12 2005 2016
dbSNP: rs137852986
rs137852986
BRIP1
0.732 0.440 17 61716051 stop gained G/A snv 1.7E-04 1.5E-04
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 10 2005 2015
dbSNP: rs574552037
rs574552037
BRIP1
1.000 0.120 17 61716043 stop gained G/A;C snv 3.3E-04; 2.4E-05; 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 6 2005 2017
dbSNP: rs587781321
rs587781321
BRIP1
0.882 0.280 17 61780325 stop gained G/A;T snv 1.6E-05; 2.0E-05
CUI: C1836860
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		0.700 1.000 6 2014 2016
dbSNP: rs587781321
rs587781321
BRIP1
0.882 0.280 17 61780325 stop gained G/A;T snv 1.6E-05; 2.0E-05
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.700 1.000 5 2014 2018
dbSNP: rs587781321
rs587781321
BRIP1
0.882 0.280 17 61780325 stop gained G/A;T snv 1.6E-05; 2.0E-05
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.700 1.000 5 2014 2016
dbSNP: rs587780226
rs587780226
BRIP1
0.882 0.280 17 61799125 stop gained G/A;T snv 1.2E-05
CUI: C1836860
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		0.700 1.000 4 2016 2017
dbSNP: rs587780226
rs587780226
BRIP1
0.882 0.280 17 61799125 stop gained G/A;T snv 1.2E-05
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.700 1.000 4 2016 2017
dbSNP: rs786202927
rs786202927
BRIP1
17 61683814 stop gained T/A snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 4 2010 2012
dbSNP: rs137852986
rs137852986
BRIP1
0.732 0.440 17 61716051 stop gained G/A snv 1.7E-04 1.5E-04
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 1.000 3 2005 2016
dbSNP: rs574552037
rs574552037
BRIP1
1.000 0.120 17 61716043 stop gained G/A;C snv 3.3E-04; 2.4E-05; 4.0E-06
CUI: C1836860
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		0.700 1.000 3 2005 2015
dbSNP: rs587780228
rs587780228
BRIP1
0.882 0.280 17 61793698 stop gained C/A;G snv 4.0E-06 2.8E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 3 2016 2017
dbSNP: rs587781321
rs587781321
BRIP1
0.882 0.280 17 61780325 stop gained G/A;T snv 1.6E-05; 2.0E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 3 2014 2016
dbSNP: rs587782410
rs587782410
BRIP1
0.882 0.280 17 61685976 stop gained A/C snv 1.2E-05 1.4E-05
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.700 1.000 3 2015 2016
dbSNP: rs587782410
rs587782410
BRIP1
0.882 0.280 17 61685976 stop gained A/C snv 1.2E-05 1.4E-05
CUI: C1836860
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		0.700 1.000 3 2015 2016
dbSNP: rs780020495
rs780020495
BRIP1
0.882 0.240 17 61780893 stop gained G/A snv 2.0E-05
CUI: C1836860
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		0.700 1.000 3 2015 2018
dbSNP: rs1060501774
rs1060501774
BRIP1
0.925 0.200 17 61683718 stop gained C/A snv
CUI: C1836860
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		0.700 1.000 2 2010 2011
dbSNP: rs1060501774
rs1060501774
BRIP1
0.925 0.200 17 61683718 stop gained C/A snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 1.000 2 2010 2011
dbSNP: rs1420431000
rs1420431000
BRIP1
0.925 0.200 17 61683816 stop gained A/C snv 7.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 1.000 2 2010 2011
dbSNP: rs1420431000
rs1420431000
BRIP1
0.925 0.200 17 61683816 stop gained A/C snv 7.0E-06
CUI: C1836860
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		0.700 1.000 2 2010 2011
dbSNP: rs1555572698
rs1555572698
BRIP1
0.925 0.200 17 61683736 stop gained C/A snv
CUI: C1836860
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		0.700 1.000 2 2010 2011
dbSNP: rs1555572698
rs1555572698
BRIP1
0.925 0.200 17 61683736 stop gained C/A snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 1.000 2 2010 2011
dbSNP: rs368796923
rs368796923
BRIP1
0.882 0.280 17 61799200 stop gained G/A snv 4.0E-06 7.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 1.000 2 2017 2018
dbSNP: rs587780228
rs587780228
BRIP1
0.882 0.280 17 61793698 stop gained C/A;G snv 4.0E-06 2.8E-05
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.700 1.000 2 2016 2016