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: 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: rs780020495
rs780020495
BRIP1
0.882 0.240 17 61780893 stop gained G/A snv 2.0E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 2 2015 2016
dbSNP: rs780020495
rs780020495
BRIP1
0.882 0.240 17 61780893 stop gained G/A snv 2.0E-05
CUI: C4016951
Disease: BREAST CANCER, EARLY-ONSET
BREAST CANCER, EARLY-ONSET 		0.700 0
dbSNP: rs780020495
rs780020495
BRIP1
0.882 0.240 17 61780893 stop gained G/A snv 2.0E-05
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.700 0