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: rs1805067
rs1805067
2 0.925 0.080 16 55698511 missense variant G/A snv 2.8E-05 2.1E-05 0.010 1.000 1 2002 2002
dbSNP: rs746682028
rs746682028
36 0.645 0.480 11 27658414 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs4746
rs4746
21 0.708 0.400 6 38682852 missense variant T/A;G snv 0.36 0.010 1.000 1 2006 2006
dbSNP: rs1386483
rs1386483
9 0.790 0.080 12 72018714 intron variant T/C snv 0.53 0.010 1.000 1 2007 2007
dbSNP: rs2296972
rs2296972
4 0.925 0.080 13 46854336 intron variant A/C snv 0.70 0.010 1.000 1 2007 2007
dbSNP: rs2770292
rs2770292
1 1.000 0.040 13 46860971 intron variant C/G snv 0.18 0.010 1.000 1 2007 2007
dbSNP: rs3742278
rs3742278
1 1.000 0.040 13 46845442 intron variant A/G snv 0.19 0.010 1.000 1 2007 2007
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
dbSNP: rs11724320
rs11724320
2 0.925 0.040 4 163346771 intron variant T/C snv 0.56 0.010 1.000 1 2008 2008
dbSNP: rs1173546708
rs1173546708
5 0.851 0.120 11 18040661 synonymous variant G/A snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs11946004
rs11946004
2 0.925 0.040 4 163351551 synonymous variant G/A;T snv 0.10; 4.0E-06 0.010 1.000 1 2008 2008
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: rs11030104
rs11030104
12 0.790 0.240 11 27662970 intron variant A/G snv 0.16 0.010 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: rs11805657
rs11805657
1 1.000 0.040 1 240955726 intron variant T/C snv 0.87 0.010 1.000 1 2009 2009
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: 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: 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