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: rs9302001
rs9302001
1 1.000 0.040 13 94811138 intergenic variant C/A;T snv 0.800 1.000 2 2009 2012
dbSNP: rs12061304
rs12061304
1 1.000 0.040 1 110695063 intergenic variant A/G snv 0.30 0.800 1.000 1 2009 2009
dbSNP: rs12579350
rs12579350
3 0.882 0.080 12 5687935 intron variant G/A snv 0.12 0.800 1.000 1 2009 2009
dbSNP: rs17466684
rs17466684
5 0.925 0.120 8 27595330 downstream gene variant G/A snv 0.15 0.800 1.000 1 2009 2009
dbSNP: rs3816995
rs3816995
1 1.000 0.040 17 73339121 intron variant G/A snv 0.40 0.800 1.000 1 2009 2009
dbSNP: rs860554
rs860554
1 1.000 0.040 1 201293304 intron variant C/G;T snv 0.800 1.000 1 2009 2009
dbSNP: rs9372078
rs9372078
1 1.000 0.040 6 150592825 intergenic variant T/A snv 0.73 0.800 1.000 1 2009 2009
dbSNP: rs941184
rs941184
1 1.000 0.040 12 53720374 intron variant C/T snv 3.6E-02 0.800 1.000 1 2009 2009
dbSNP: rs10216809
rs10216809
2 0.925 0.080 8 14507414 intron variant C/G;T snv 0.700 1.000 1 2009 2009
dbSNP: rs10415555
rs10415555
1 1.000 0.040 19 33519283 intron variant A/G snv 0.19 0.700 1.000 1 2009 2009
dbSNP: rs10894993
rs10894993
2 0.925 0.080 11 100627998 intergenic variant T/G snv 4.7E-02 0.700 1.000 1 2009 2009
dbSNP: rs11210604
rs11210604
2 0.925 0.080 1 42158001 downstream gene variant T/A;G snv 0.700 1.000 1 2009 2009
dbSNP: rs13356494
rs13356494
1 1.000 0.040 5 135991866 regulatory region variant C/G;T snv 0.700 1.000 1 2009 2009
dbSNP: rs1418688
rs1418688
1 1.000 0.040 6 71169166 downstream gene variant A/G;T snv 0.700 1.000 1 2009 2009
dbSNP: rs16938184
rs16938184
1 1.000 0.040 11 45179068 intron variant G/A;C snv 0.700 1.000 1 2009 2009
dbSNP: rs17260539
rs17260539
1 1.000 0.040 9 12182545 intergenic variant G/A snv 6.6E-02 0.700 1.000 1 2009 2009
dbSNP: rs4145262
rs4145262
1 1.000 0.040 12 105659532 regulatory region variant C/A snv 4.8E-02 0.700 1.000 1 2012 2012
dbSNP: rs7301616
rs7301616
1 1.000 0.040 12 60214608 intron variant C/T snv 0.96 0.700 1.000 1 2009 2009
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.100 1.000 15 2002 2018
dbSNP: rs324981
rs324981
18 0.724 0.320 7 34778501 missense variant A/T snv 0.44 0.47 0.090 1.000 9 2011 2019
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.060 1.000 6 2004 2019
dbSNP: rs6313
rs6313
82 0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40 0.060 1.000 6 2001 2016
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.060 1.000 6 2004 2019
dbSNP: rs7688285
rs7688285
2 0.925 0.040 4 157047466 intergenic variant G/A snv 0.10 0.030 1.000 3 2017 2019
dbSNP: rs1386494
rs1386494
7 0.790 0.120 12 71958763 intron variant T/C;G snv 0.82 0.020 1.000 2 2007 2008