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: 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: 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: rs10951154
rs10951154
2 0.925 0.040 7 27095695 missense variant C/A;G;T snv 0.76 0.040 0.750 4 2002 2009
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: rs2292813
rs2292813
3 0.882 0.040 2 171787719 intron variant T/C snv 0.81 0.040 1.000 4 2005 2010
dbSNP: rs7794745
rs7794745
6 0.851 0.040 7 146792514 intron variant A/T snv 0.49 0.040 0.750 4 2011 2017
dbSNP: rs1858830
rs1858830
MET
4 0.925 0.040 7 116672385 5 prime UTR variant C/G snv 0.40 0.030 1.000 3 2009 2010
dbSNP: rs4141463
rs4141463
3 0.925 0.040 20 14766825 intron variant T/C snv 0.50 0.820 0.667 3 2010 2019
dbSNP: rs2217262
rs2217262
1 1.000 0.040 7 112156322 intron variant A/C snv 7.2E-02 0.020 1.000 2 2010 2014
dbSNP: rs751945904
rs751945904
2 0.925 0.040 X 5893158 missense variant G/A snv 1.1E-05 0.020 1.000 2 2011 2019
dbSNP: rs7603001
rs7603001
2 0.925 0.040 2 184902089 intron variant A/G;T snv 0.020 0.500 2 2014 2019
dbSNP: rs761374228
rs761374228
1 1.000 0.040 2 88579603 missense variant G/A snv 8.0E-06 7.0E-06 0.020 1.000 2 2016 2018
dbSNP: rs849563
rs849563
1 1.000 0.040 2 205745778 synonymous variant T/A;G snv 4.0E-06; 0.19 0.020 1.000 2 2007 2017
dbSNP: rs10038113
rs10038113
1 1.000 0.040 5 25902233 intergenic variant T/C snv 0.45 0.700 1.000 1 2009 2009
dbSNP: rs10058083
rs10058083
1 1.000 0.040 5 25894289 intergenic variant G/A snv 0.38 0.700 1.000 1 2009 2009
dbSNP: rs10185592
rs10185592
1 1.000 0.040 2 205829457 intergenic variant A/C snv 0.11 0.700 1.000 1 2012 2012
dbSNP: rs10205350
rs10205350
1 1.000 0.040 2 30923631 intron variant G/T snv 0.24 0.700 1.000 1 2012 2012
dbSNP: rs10239799
rs10239799
1 1.000 0.040 7 120765281 intergenic variant C/T snv 0.37 0.700 1.000 1 2013 2013
dbSNP: rs10489525
rs10489525
1 1.000 0.040 1 114721064 intron variant G/A snv 0.32 0.800 1.000 1 2014 2014
dbSNP: rs10498676
rs10498676
3 0.925 0.040 6 11026766 intron variant G/A snv 0.18 0.010 1.000 1 2018 2018
dbSNP: rs10500171
rs10500171
1 1.000 0.040 7 147183313 intron variant A/G snv 0.52 0.010 1.000 1 2010 2010
dbSNP: rs10513025
rs10513025
1 1.000 0.040 5 9623510 non coding transcript exon variant T/C snv 5.4E-02 0.800 1.000 1 2009 2009
dbSNP: rs1053972
rs1053972
1 1.000 0.040 19 50855373 3 prime UTR variant C/T snv 0.24 0.010 1.000 1 2016 2016
dbSNP: rs1064794245
rs1064794245
1 1.000 0.040 22 40349918 missense variant A/C snv 0.010 1.000 1 2004 2004
dbSNP: rs10732392
rs10732392
1 1.000 0.040 9 126633758 intron variant A/G snv 0.84 0.010 1.000 1 2011 2011