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: 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: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.700 1.000 5 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: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 3 2014 2016