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: rs2208059
rs2208059
KIF16B
1 20 16330665 intron variant T/C snv 0.72 0.700 1.000 1 2011 2011
dbSNP: rs80359601
rs80359601
BRCA2
8 0.807 0.360 13 32340890 frameshift variant -/A;NNNNNNNN ins 4.1E-06 0.700 0
dbSNP: rs794728615
rs794728615
MEN1
5 0.882 0.160 11 64810025 stop gained G/A;C snv 4.2E-06 0.010 1.000 1 2012 2012