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: rs11077
rs11077
11 0.744 0.321 6 43523209 3 prime UTR variant T/G snp 0.47 0.010 1.000 1 2017 2017
dbSNP: rs112431538
rs112431538
5 0.846 0.179 17 7673767 missense variant C/T snp 0.010 < 0.001 1 2012 2012
dbSNP: rs11540654
rs11540654
117 0.492 0.679 17 7676040 missense variant C/A,G,T snp 4.8E-05 3.2E-05 0.010 1.000 1 2014 2014
dbSNP: rs12628
rs12628
6 0.821 0.143 11 534242 synonymous variant A/G snp 0.32 0.34 0.010 1.000 1 2013 2013
dbSNP: rs1443434
rs1443434
2 0.923 0.071 9 97855197 3 prime UTR variant G/T snp 0.64 0.010 1.000 1 2016 2016
dbSNP: rs17882252
rs17882252
5 0.846 0.143 17 7670694 missense variant C/G,T snp 8.0E-06; 6.4E-05 6.4E-05 0.010 < 0.001 1 2012 2012
dbSNP: rs187238
rs187238
18 0.692 0.393 11 112164265 intron variant C/A,G snp 0.25 0.010 1.000 1 2016 2016
dbSNP: rs1946518
rs1946518
14 0.707 0.357 11 112164735 intron variant T/G snp 0.59 0.010 1.000 1 2016 2016
dbSNP: rs1946519
rs1946519
2 0.923 0.071 11 112164784 intron variant A/C snp 0.59 0.010 1.000 1 2016 2016
dbSNP: rs2066827
rs2066827
15 0.707 0.250 12 12718165 missense variant T/A,C,G snp 1.6E-04; 1.6E-05; 0.26 0.36 0.010 1.000 1 2010 2010
dbSNP: rs2241880
rs2241880
24 0.662 0.393 2 233274722 missense variant A/G snp 0.45 0.43 0.010 1.000 1 2016 2016
dbSNP: rs2439302
rs2439302
3 0.878 0.071 8 32574851 intron variant G/C snp 0.54 0.010 1.000 1 2015 2015
dbSNP: rs28934576
rs28934576
64 0.563 0.536 17 7673802 missense variant C/A,G,T snp 4.0E-06; 1.6E-05 0.010 1.000 1 2016 2016
dbSNP: rs34330
rs34330
8 0.769 0.179 12 12717761 5 prime UTR variant T/C snp 0.69 0.010 1.000 1 2010 2010
dbSNP: rs360717
rs360717
2 0.923 0.071 11 112164002 5 prime UTR variant G/A snp 0.25 0.010 1.000 1 2016 2016
dbSNP: rs360718
rs360718
4 0.846 0.107 11 112164016 5 prime UTR variant A/C snp 0.26 0.010 1.000 1 2016 2016
dbSNP: rs36228499
rs36228499
2 0.923 0.071 12 12717002 intron variant C/A snp 0.40 0.010 1.000 1 2010 2010
dbSNP: rs587782006
rs587782006
2 0.923 0.071 17 7673761 missense variant C/T snp 4.0E-06 0.010 < 0.001 1 2012 2012
dbSNP: rs6983267
rs6983267
24 0.667 0.214 8 127401060 non coding transcript exon variant G/T snp 0.38 0.010 1.000 1 2015 2015
dbSNP: rs699947
rs699947
25 0.667 0.571 6 43768652 intergenic variant A/C,T snp 0.59 0.010 1.000 1 2008 2008
dbSNP: rs7028661
rs7028661
3 0.923 0.071 9 97776188 intergenic variant A/G snp 0.71 0.010 1.000 1 2015 2015
dbSNP: rs7037324
rs7037324
2 0.923 0.071 9 97896036 regulatory region variant A/G snp 0.71 0.010 1.000 1 2015 2015
dbSNP: rs7080536
rs7080536
22 0.685 0.286 10 113588287 missense variant G/A snp 2.2E-02 2.3E-02 0.010 1.000 1 2016 2016
dbSNP: rs768174463
rs768174463
2 0.923 0.071 3 132352804 missense variant G/A snp 4.0E-06 0.010 < 0.001 1 2012 2012
dbSNP: rs7850258
rs7850258
5 0.846 0.179 9 97786731 intergenic variant A/G snp 0.71 0.010 1.000 1 2016 2016