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: rs2909430
rs2909430
5 0.827 0.200 17 7675327 5 prime UTR variant C/G;T snv 0.010 1.000 1 2007 2007
dbSNP: rs34330
rs34330
15 0.724 0.280 12 12717761 5 prime UTR variant T/C snv 0.70 0.010 1.000 1 2007 2007
dbSNP: rs3750861
rs3750861
5 0.827 0.120 10 3782241 intron variant C/T snv 8.2E-02 6.6E-02 0.010 1.000 1 2007 2007
dbSNP: rs663048
rs663048
3 0.882 0.080 22 26299111 missense variant G/A;T snv 4.2E-06; 0.19 0.010 1.000 1 2007 2007
dbSNP: rs7483
rs7483
11 0.742 0.320 1 109737079 missense variant C/T snv 4.0E-06; 0.35 0.26 0.010 1.000 1 2007 2007
dbSNP: rs755174338
rs755174338
15 0.732 0.360 19 45364096 missense variant C/T snv 2.6E-05 1.4E-05 0.010 1.000 1 2007 2007
dbSNP: rs760943842
rs760943842
5 0.851 0.080 1 23362976 missense variant G/A snv 4.0E-05 1.4E-05 0.010 1.000 1 2007 2007
dbSNP: rs768873896
rs768873896
7 0.790 0.160 1 11794822 missense variant C/G;T snv 8.0E-06; 2.4E-05 0.010 1.000 1 2007 2007
dbSNP: rs778415469
rs778415469
3 0.882 0.080 8 18222385 missense variant C/G snv 8.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs781742574
rs781742574
3 0.882 0.080 1 11800254 missense variant T/C snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs886039484
rs886039484
32 0.641 0.440 17 7674888 missense variant T/C;G snv 0.010 1.000 1 2007 2007
dbSNP: rs9895829
rs9895829
6 0.807 0.080 17 7675361 5 prime UTR variant A/G snv 7.4E-02 0.010 1.000 1 2007 2007
dbSNP: rs1050450
rs1050450
43 0.623 0.600 3 49357401 missense variant G/A snv 0.28 0.30 0.030 1.000 3 2007 2008
dbSNP: rs125555
rs125555
4 0.882 0.080 18 50273809 missense variant G/A;C snv 3.6E-05; 0.19 0.020 1.000 2 2005 2008
dbSNP: rs2279744
rs2279744
48 0.605 0.640 12 68808800 intron variant T/G snv 0.31 0.020 1.000 2 2006 2008
dbSNP: rs1058808
rs1058808
27 0.658 0.360 17 39727784 missense variant C/G snv 0.61 0.52 0.010 1.000 1 2008 2008
dbSNP: rs11715541
rs11715541
3 0.882 0.080 3 62373795 intron variant G/T snv 0.010 1.000 1 2008 2008
dbSNP: rs1175543
rs1175543
5 0.851 0.120 3 12424934 intron variant A/G snv 0.28 0.010 1.000 1 2008 2008
dbSNP: rs11878644
rs11878644
3 0.882 0.080 19 45373709 upstream gene variant T/C snv 0.53 0.010 1.000 1 2008 2008
dbSNP: rs121434592
rs121434592
54 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs12268840
rs12268840
6 0.827 0.200 10 129527035 intron variant C/T snv 0.22 0.010 < 0.001 1 2008 2008
dbSNP: rs12334811
rs12334811
4 0.851 0.080 8 47920417 intron variant G/A snv 0.15 0.010 1.000 1 2008 2008
dbSNP: rs13073869
rs13073869
3 0.882 0.080 3 12312494 intron variant G/A;C snv 0.010 1.000 1 2008 2008
dbSNP: rs1329032366
rs1329032366
5 0.882 0.080 4 94654530 missense variant A/G snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs1330189219
rs1330189219
5 0.882 0.080 6 31573570 synonymous variant C/T snv 4.0E-06 0.010 1.000 1 2008 2008