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: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 3 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: 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: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.700 1.000 2 2016 2016
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