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: 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: rs786203521
rs786203521
BRIP1
0.882 0.280 17 61849195 stop gained -/T delins
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.700 0
dbSNP: rs786203521
rs786203521
BRIP1
0.882 0.280 17 61849195 stop gained -/T delins
CUI: C1836860
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		0.700 0
dbSNP: rs786203521
rs786203521
BRIP1
0.882 0.280 17 61849195 stop gained -/T delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0