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: rs587782480
rs587782480
CHEK2
1 22 28699888 missense variant T/C snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs727502792
rs727502792
SPOP
3 0.925 0.080 17 49601958 missense variant T/A snv 0.010 1.000 1 2014 2014
dbSNP: rs746001963
rs746001963
ERG
3 0.925 0.080 21 38383659 missense variant A/T snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs7639352
rs7639352
ADIPOQ-AS1
1 3 186860685 upstream gene variant C/T snv 0.29 0.010 1.000 1 2011 2011
dbSNP: rs786202601
rs786202601
CHEK2
3 1.000 0.120 22 28694059 frameshift variant T/- delins 0.010 1.000 1 2006 2006
dbSNP: rs976306779
rs976306779
AR
8 0.851 0.080 X 67545492 missense variant C/A;T snv 6.6E-06 0.010 1.000 1 2008 2008