Source: UNIPROT

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: rs80357474
rs80357474
BRCA1
0.827 0.200 17 43049188 missense variant A/C;G;T snv 8.0E-06
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.800 1.000 16 2003 2017
dbSNP: rs80357474
rs80357474
BRCA1
0.827 0.200 17 43049188 missense variant A/C;G;T snv 8.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.710 1.000 0 2017 2017
dbSNP: rs80357474
rs80357474
BRCA1
0.827 0.200 17 43049188 missense variant A/C;G;T snv 8.0E-06
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.700 0