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: rs242557
rs242557
6 0.821 0.179 17 45942346 intron variant G/A snp 0.38 0.830 1.000 4 2010 2016
dbSNP: rs1768208
rs1768208
4 0.878 0.179 3 39481512 intron variant T/C snp 0.76 0.820 1.000 3 2011 2016
dbSNP: rs11568563
rs11568563
2 0.923 0.214 12 21304500 missense variant T/G snp 4.5E-02 4.7E-02 0.810 1.000 2 2011 2012
dbSNP: rs1411478
rs1411478
2 0.923 0.107 1 180993146 intron variant A/G snp 0.57 0.810 1.000 2 2011 2013
dbSNP: rs63751391
rs63751391
2 0.923 0.107 17 46010395 missense variant G/T snp 0.810 1.000 1 2005 2005
dbSNP: rs12203592
rs12203592
22 0.699 0.250 6 396321 intron variant C/T snp 9.0E-02 0.800 1 2011 2011
dbSNP: rs2142991
rs2142991
1 1.000 0.107 10 42845657 intergenic variant C/G,T snp 0.87 0.800 1 2011 2011
dbSNP: rs63750959
rs63750959
7 0.784 0.179 17 45962351 missense variant G/A,T snp 6.0E-05 0.800 1 2002 2002
dbSNP: rs6547705
rs6547705
1 1.000 0.107 2 86817193 intron variant G/A snp 0.84 0.800 1 2011 2011
dbSNP: rs6687758
rs6687758
3 0.878 0.179 1 221991606 regulatory region variant A/G snp 0.21 0.800 1 2011 2011
dbSNP: rs6852535
rs6852535
1 1.000 0.107 4 122557561 intergenic variant G/A snp 0.24 0.800 1 2011 2011
dbSNP: rs7571971
rs7571971
1 1.000 0.107 2 88595833 5 prime UTR variant T/C snp 0.70 0.77 0.800 1 2011 2011
dbSNP: rs8070723
rs8070723
8 0.846 0.214 17 46003698 intron variant A/G snp 0.16 0.800 1 2011 2011
dbSNP: rs63751273
rs63751273
26 0.692 0.250 17 46010389 missense variant C/T snp 0.720 1.000 8 1998 2016
dbSNP: rs63750425
rs63750425
1 1.000 0.107 17 46018675 missense variant C/T snp 0.700 1 2003 2003
dbSNP: rs137853058
rs137853058
2 0.923 0.107 6 161973401 missense variant C/T snp 1.2E-05 0.020 1.000 2 2003 2003
dbSNP: rs143624519
rs143624519
12 0.756 0.250 17 45991484 missense variant G/A,T snp 1.5E-03; 1.2E-05 1.5E-03 0.020 1.000 2 2013 2016
dbSNP: rs1816
rs1816
2 0.923 0.179 17 46199252 intron variant A/G snp 0.13 0.010 1.000 1 2002 2002
dbSNP: rs63749855
rs63749855
5 0.821 0.179 17 46014271 missense variant T/G snp 0.010 1.000 1 2011 2011
dbSNP: rs63750424
rs63750424
25 0.692 0.214 17 46024061 missense variant C/T snp 1.6E-05 0.010 1.000 1 1999 1999
dbSNP: rs75932628
rs75932628
22 0.679 0.250 6 41161514 missense variant C/A,T snp 6.8E-05; 2.6E-03 1.5E-03 0.010 < 0.001 1 2013 2013
dbSNP: rs76980269
rs76980269
9 0.756 0.250 12 117330794 synonymous variant G/A snp 2.8E-05 6.4E-05 0.010 1.000 1 2008 2008