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: rs1057519365
rs1057519365
BRIP1
0.851 0.320 17 61780931 frameshift variant TT/- delins
CUI: C1836860
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		0.700 1.000 3 2011 2016
dbSNP: rs1057519365
rs1057519365
BRIP1
0.851 0.320 17 61780931 frameshift variant TT/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 3 2011 2016
dbSNP: rs1057519365
rs1057519365
BRIP1
0.851 0.320 17 61780931 frameshift variant TT/- delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 1.000 2 2011 2015
dbSNP: rs1057519365
rs1057519365
BRIP1
0.851 0.320 17 61780931 frameshift variant TT/- delins
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.700 1.000 2 2011 2016
dbSNP: rs1057519365
rs1057519365
BRIP1
0.851 0.320 17 61780931 frameshift variant TT/- delins
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.700 1.000 1 2016 2016