Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1555280334
rs1555280334
BRCA2
1 1.000 13 32319090 frameshift variant AAGTCTTAATTGGTTTGAAGAACTTTCTTCAGAAGCTCCACCCTATAATTCTGAAC/- del 0.700 1.000 2 2006 2009
dbSNP: rs80357729
rs80357729
BRCA1
5 0.851 0.200 17 43091903 frameshift variant -/T delins 8.0E-06 0.700 0