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: rs339331
rs339331
4 0.882 0.080 6 116888889 intron variant T/C snv 0.28 0.010 1.000 1 2014 2014
dbSNP: rs1571801
rs1571801
6 0.827 0.120 9 121665094 intron variant G/T snv 0.21 0.010 1.000 1 2007 2007
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2008 2008
dbSNP: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs486907
rs486907
32 0.667 0.360 1 182585422 missense variant C/T snv 0.31 0.28 0.020 1.000 2 2006 2009
dbSNP: rs266729
rs266729
37 0.637 0.560 3 186841685 upstream gene variant C/A;G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs182052
rs182052
19 0.701 0.440 3 186842993 intron variant G/A snv 0.38 0.010 1.000 1 2011 2011
dbSNP: rs16861209
rs16861209
1 3 186845325 intron variant C/A;G snv 0.010 1.000 1 2011 2011
dbSNP: rs17366568
rs17366568
6 0.851 0.200 3 186852664 non coding transcript exon variant G/A snv 8.8E-02 0.010 1.000 1 2011 2011
dbSNP: rs3774261
rs3774261
10 0.776 0.320 3 186853770 splice region variant A/G snv 0.55 0.010 1.000 1 2011 2011
dbSNP: rs7639352
rs7639352
1 3 186860685 upstream gene variant C/T snv 0.29 0.010 1.000 1 2011 2011
dbSNP: rs375118292
rs375118292
3 0.925 0.080 2 224506080 missense variant T/A;C snv 2.0E-05 0.010 1.000 1 2014 2014
dbSNP: rs1512268
rs1512268
6 0.851 0.160 8 23668950 intergenic variant T/C snv 0.50 0.010 1.000 1 2010 2010
dbSNP: rs148609049
rs148609049
1 2 241188699 stop gained C/G;T snv 5.5E-03 0.010 < 0.001 1 2018 2018
dbSNP: rs786202601
rs786202601
3 1.000 0.120 22 28694059 frameshift variant T/- delins 0.010 1.000 1 2006 2006
dbSNP: rs587782480
rs587782480
1 22 28699888 missense variant T/C snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs28909982
rs28909982
4 0.925 0.080 22 28725338 missense variant T/C snv 1.2E-04 9.1E-05 0.010 1.000 1 2006 2006
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: rs368234815
rs368234815
15 0.742 0.280 19 39248514 frameshift variant TT/G;T delins 0.010 1.000 1 2018 2018
dbSNP: rs138213197
rs138213197
24 0.701 0.240 17 48728343 missense variant C/T snv 1.8E-03 1.6E-03 0.030 1.000 3 2013 2017
dbSNP: rs727502792
rs727502792
3 0.925 0.080 17 49601958 missense variant T/A snv 0.010 1.000 1 2014 2014
dbSNP: rs1057519971
rs1057519971
2 1.000 0.080 17 49619326 missense variant T/C;G snv 0.010 1.000 1 2015 2015
dbSNP: rs121913430
rs121913430
3 1.000 0.080 7 55174740 missense variant G/A snv 0.700 1.000 1 2014 2014
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
dbSNP: rs137852581
rs137852581
AR
5 0.882 0.080 X 67723701 missense variant C/T snv 0.010 1.000 1 2004 2004