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: rs2647012
rs2647012
7 0.790 0.320 6 32696681 intergenic variant T/C snv 0.64 0.020 1.000 2 2013 2017
dbSNP: rs10008492
rs10008492
2 1.000 0.120 4 38764099 intergenic variant C/G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs207186
rs207186
2 0.925 0.120 1 55359252 intron variant C/T snv 7.7E-03 0.010 1.000 1 2017 2017
dbSNP: rs3115667
rs3115667
3 0.882 0.200 6 31675622 downstream gene variant T/A;C snv 0.74 0.010 1.000 1 2011 2011
dbSNP: rs441399
rs441399
1 1.000 0.120 15 90822992 regulatory region variant G/A snv 0.50 0.010 1.000 1 2010 2010
dbSNP: rs4934436
rs4934436
1 1.000 0.120 10 89023563 intergenic variant C/T snv 0.60 0.010 1.000 1 2009 2009
dbSNP: rs4975616
rs4975616
12 0.763 0.320 5 1315545 downstream gene variant G/A snv 0.51 0.010 1.000 1 2014 2014
dbSNP: rs603097
rs603097
1 1.000 0.120 18 54226736 upstream gene variant G/A snv 0.85 0.010 1.000 1 2013 2013
dbSNP: rs6421571
rs6421571
6 0.851 0.200 11 118873063 intergenic variant T/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs6457327
rs6457327
7 0.790 0.320 6 31106253 downstream gene variant A/C snv 0.66 0.010 1.000 1 2014 2014
dbSNP: rs7679673
rs7679673
28 0.677 0.440 4 105140377 intron variant C/A snv 0.50 0.010 1.000 1 2014 2014
dbSNP: rs80202369
rs80202369
1 1.000 0.120 11 118873150 intergenic variant G/A snv 6.6E-03 0.010 1.000 1 2012 2012
dbSNP: rs2857597
rs2857597
3 0.882 0.200 6 31617223 upstream gene variant T/A snv 0.74 0.010 1.000 1 2011 2011
dbSNP: rs61733010
rs61733010
2 0.925 0.120 1 45561805 missense variant C/G;T snv 4.0E-06; 4.3E-04 1.9E-03 0.010 1.000 1 2007 2007
dbSNP: rs150865017
rs150865017
1 1.000 0.120 3 126154627 missense variant G/A;T snv 1.6E-05; 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs1127717
rs1127717
3 0.925 0.160 3 126107216 missense variant T/C snv 0.18 0.20 0.010 1.000 1 2013 2013
dbSNP: rs227060
rs227060
3 0.882 0.160 11 108334154 intron variant C/T snv 0.27 0.010 1.000 1 2014 2014
dbSNP: rs1039312028
rs1039312028
BAX
1 1.000 0.120 19 48955724 missense variant G/A snv 1.4E-05 0.010 1.000 1 2014 2014
dbSNP: rs1800477
rs1800477
12 0.763 0.480 18 63318540 missense variant C/T snv 1.8E-02 4.9E-03 0.010 1.000 1 2014 2014
dbSNP: rs3789068
rs3789068
2 0.925 0.120 2 111151670 intron variant A/G snv 0.41 0.010 1.000 1 2012 2012
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.010 1.000 1 2019 2019
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.010 1.000 1 2019 2019
dbSNP: rs121913338
rs121913338
24 0.677 0.400 7 140753354 missense variant T/A;C;G snv 0.010 1.000 1 2003 2003
dbSNP: rs121913355
rs121913355
42 0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs121913357
rs121913357
12 0.742 0.320 7 140781603 stop gained C/A;G;T snv 0.010 1.000 1 2003 2003