Source: BEFREE

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: rs397509039
rs397509039
BRCA1
1.000 0.200 17 43092379 missense variant G/A;C snv
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 1.000 1 2009 2009
dbSNP: rs62625307
rs62625307
BRCA1
0.827 0.200 17 43091933 stop gained G/A snv 4.0E-06
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 1.000 1 2007 2007