Source: ALL

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: rs4987046
rs4987046
BRCA2
0.925 0.160 13 32319134 missense variant A/G snv 1.6E-03 1.6E-03
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 1.000 5 2004 2014
dbSNP: rs4987046
rs4987046
BRCA2
0.925 0.160 13 32319134 missense variant A/G snv 1.6E-03 1.6E-03
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.700 0
dbSNP: rs4987046
rs4987046
BRCA2
0.925 0.160 13 32319134 missense variant A/G snv 1.6E-03 1.6E-03
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 2003 2003
dbSNP: rs4987046
rs4987046
BRCA2
0.925 0.160 13 32319134 missense variant A/G snv 1.6E-03 1.6E-03
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2003 2003