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: rs4341581
rs4341581
1 1.000 0.040 12 71941293 intron variant G/T snv 0.97 0.010 < 0.001 1 2006 2006
dbSNP: rs6537825
rs6537825
1 1.000 0.040 1 114405659 missense variant A/G snv 0.88 0.92 0.800 1.000 1 2014 2014
dbSNP: rs4773054
rs4773054
2 1.000 0.040 13 109501681 intron variant T/C snv 0.89 0.700 1.000 1 2015 2015
dbSNP: rs288604
rs288604
1 1.000 0.040 16 62638708 intergenic variant G/A snv 0.87 0.700 1.000 1 2012 2012
dbSNP: rs1409313
rs1409313
2 1.000 0.040 10 102431844 intron variant T/C snv 0.85 0.010 1.000 1 2019 2019
dbSNP: rs10732392
rs10732392
1 1.000 0.040 9 126633758 intron variant A/G snv 0.84 0.010 1.000 1 2011 2011
dbSNP: rs1936295
rs1936295
1 1.000 0.040 10 117902581 intergenic variant T/C snv 0.83 0.700 1.000 1 2012 2012
dbSNP: rs25925
rs25925
2 0.925 0.040 5 111484055 synonymous variant G/C snv 0.75 0.83 0.010 1.000 1 2014 2014
dbSNP: rs7834018
rs7834018
1 1.000 0.040 8 71649507 intergenic variant C/T snv 0.83 0.800 1.000 1 2012 2012
dbSNP: rs2292813
rs2292813
3 0.882 0.040 2 171787719 intron variant T/C snv 0.81 0.040 1.000 4 2005 2010
dbSNP: rs2150291
rs2150291
1 1.000 0.040 14 63864705 intron variant T/C snv 0.81 0.700 1.000 1 2012 2012
dbSNP: rs6537835
rs6537835
1 1.000 0.040 1 114566293 downstream gene variant G/A snv 0.80 0.010 1.000 1 2014 2014
dbSNP: rs1625579
rs1625579
14 0.763 0.160 1 98037378 intron variant G/T snv 0.78 0.010 1.000 1 2019 2019
dbSNP: rs2056202
rs2056202
4 0.882 0.040 2 171855970 intron variant T/C snv 0.81 0.77 0.040 1.000 4 2005 2010
dbSNP: rs1340513
rs1340513
4 0.882 0.120 9 6977633 intron variant G/A snv 0.75 0.010 1.000 1 2010 2010
dbSNP: rs29456
rs29456
1 1.000 0.040 5 66244019 intergenic variant T/C snv 0.73 0.700 1.000 1 2012 2012
dbSNP: rs1861973
rs1861973
EN2
2 0.925 0.040 7 155461450 intron variant T/C snv 0.73 0.060 1.000 6 2004 2010
dbSNP: rs1861972
rs1861972
EN2
2 0.925 0.040 7 155461298 intron variant G/A snv 0.72 0.070 1.000 7 2004 2010
dbSNP: rs7925879
rs7925879
1 1.000 0.040 11 124870795 intron variant A/G snv 0.72 0.010 1.000 1 2008 2008
dbSNP: rs3923890
rs3923890
1 1.000 0.040 11 124870514 intron variant A/T snv 0.72 0.010 1.000 1 2008 2008
dbSNP: rs4701259
rs4701259
1 1.000 0.040 5 25900989 intergenic variant A/G snv 0.71 0.700 1.000 1 2009 2009
dbSNP: rs4701511
rs4701511
1 1.000 0.040 5 25895895 intergenic variant C/A snv 0.71 0.700 1.000 1 2009 2009
dbSNP: rs7705715
rs7705715
1 1.000 0.040 5 25899305 intergenic variant T/C snv 0.71 0.700 1.000 1 2009 2009
dbSNP: rs237889
rs237889
2 0.925 0.040 3 8760797 intron variant T/C snv 0.71 0.010 1.000 1 2016 2016
dbSNP: rs6590109
rs6590109
1 1.000 0.040 11 124889152 intron variant G/A snv 0.70 0.010 1.000 1 2008 2008