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: rs4072037
rs4072037
7 0.846 0.143 1 155192276 splice acceptor variant C/A,T snp 0.59 3.2E-05; 0.58 0.870 1.000 10 2010 2018
dbSNP: rs13361707
rs13361707
3 0.878 0.107 5 40791782 intron variant C/T snp 0.31 0.840 1.000 5 2012 2017
dbSNP: rs9841504
rs9841504
6 0.821 0.107 3 114643917 intron variant C/G,T snp 0.14 0.820 0.500 2 2012 2013
dbSNP: rs2294008
rs2294008
15 0.724 0.179 8 142680513 5 prime UTR variant C/T snp 0.46 0.45 0.800 1.000 25 2009 2017
dbSNP: rs3781264
rs3781264
3 0.878 0.107 10 94310618 intron variant A/G snp 0.25 0.800 1 2010 2010
dbSNP: rs10074991
rs10074991
4 0.846 0.107 5 40790449 intron variant G/A snp 0.31 0.710 1.000 2 2015 2017
dbSNP: rs3765524
rs3765524
6 0.801 0.107 10 94298541 missense variant C/T snp 0.27 0.31 0.710 1.000 2 2010 2016
dbSNP: rs121913529
rs121913529
70 0.559 0.393 12 25245350 missense variant C/A,G,T snp 4.0E-06 0.700 8 1984 2015
dbSNP: rs121908382
rs121908382
3 0.923 0.071 1 45331530 missense variant G/A snp 0.700 2 2004 2016
dbSNP: rs121908383
rs121908383
3 0.923 0.071 1 45331502 missense variant T/C snp 0.700 2 2004 2016
dbSNP: rs121913528
rs121913528
4 0.878 0.071 12 25227349 missense variant C/A,T snp 0.700 2 1992 2003
dbSNP: rs28933369
rs28933369
5 0.878 0.071 17 39724744 missense variant G/A snp 0.700 2 2004 2007
dbSNP: rs104894361
rs104894361
5 0.846 0.214 12 25245370 missense variant T/A,C,G snp 4.0E-06 0.700 1 2003 2003
dbSNP: rs1108143
rs1108143
1 1.000 0.071 2 234557214 intergenic variant A/G snp 7.9E-02 0.700 1 2017 2017
dbSNP: rs121909776
rs121909776
3 0.923 0.071 2 201187798 missense variant T/C snp 1.2E-04 9.6E-05 0.700 1 2002 2002
dbSNP: rs121912469
rs121912469
3 0.923 0.071 5 132489457 missense variant T/A snp 0.700 1 1998 1998
dbSNP: rs121912470
rs121912470
3 0.878 0.107 5 132489448 missense variant A/G snp 0.700 1 1999 1999
dbSNP: rs202208566
rs202208566
1 1.000 0.071 12 109903156 missense variant T/C snp 6.5E-04 3.2E-05 0.700 1 2009 2009
dbSNP: rs2285947
rs2285947
3 0.878 0.107 7 21544470 intron variant G/A snp 0.44 0.700 1 2013 2013
dbSNP: rs2294693
rs2294693
1 1.000 0.071 6 41037763 intron variant T/C snp 0.26 0.700 1 2017 2017
dbSNP: rs2494938
rs2494938
3 0.878 0.107 6 40568389 intron variant G/A snp 0.50 0.700 1 2013 2013
dbSNP: rs2990223
rs2990223
2 0.923 0.071 1 155215184 non coding transcript exon variant G/A snp 0.64 0.63 0.700 1 2015 2015
dbSNP: rs367807476
rs367807476
1 1.000 0.071 19 1223035 missense variant C/T snp 9.2E-06 0.700 1 1998 1998
dbSNP: rs738722
rs738722
2 0.923 0.071 22 28734024 intron variant T/C snp 0.69; 9.6E-05 0.700 1 2010 2010
dbSNP: rs7712641
rs7712641
1 1.000 0.071 5 89607147 T/A,C snp 0.59 0.700 1 2017 2017