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: rs1042114
rs1042114
6 0.807 0.120 1 28812463 missense variant G/C;T snv 0.91 0.010 1.000 1 2002 2002
dbSNP: rs768020372
rs768020372
1 1.000 0.080 12 111792761 missense variant C/G;T snv 6.3E-06 0.010 1.000 1 2002 2002
dbSNP: rs780726314
rs780726314
1 1.000 0.080 6 154039624 missense variant G/T snv 1.2E-05 7.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs1714984
rs1714984
1 1.000 0.080 17 12714384 intron variant A/G;T snv 0.010 1.000 1 2008 2008
dbSNP: rs1799913
rs1799913
5 0.851 0.080 11 18025708 splice region variant G/A;T snv 0.39 0.33 0.010 1.000 1 2008 2008
dbSNP: rs1867898
rs1867898
1 1.000 0.080 2 133762000 intergenic variant G/A snv 0.22 0.010 1.000 1 2008 2008
dbSNP: rs1986513
rs1986513
1 1.000 0.080 4 125146073 intergenic variant A/T snv 8.9E-02 0.010 1.000 1 2008 2008
dbSNP: rs2236861
rs2236861
3 0.882 0.080 1 28813244 intron variant G/A snv 0.19 0.010 1.000 1 2008 2008
dbSNP: rs4290270
rs4290270
17 0.724 0.320 12 72022455 synonymous variant A/T snv 0.57 0.55 0.010 1.000 1 2008 2008
dbSNP: rs510769
rs510769
2 1.000 0.080 6 154040884 intron variant C/T snv 0.25 0.010 1.000 1 2008 2008
dbSNP: rs7963720
rs7963720
1 1.000 0.080 12 71972406 intron variant C/G;T snv 0.010 1.000 1 2008 2008
dbSNP: rs965972
rs965972
1 1.000 0.080 1 193494720 intron variant G/A snv 0.86 0.010 1.000 1 2008 2008
dbSNP: rs1049353
rs1049353
42 0.630 0.600 6 88143916 synonymous variant C/T snv 0.21 0.20 0.010 1.000 1 2010 2010
dbSNP: rs10494334
rs10494334
1 1.000 0.080 1 163535374 intergenic variant G/A snv 0.10 0.010 1.000 1 2010 2010
dbSNP: rs11503014
rs11503014
2 1.000 0.080 4 46388848 5 prime UTR variant C/G snv 0.27 0.010 1.000 1 2010 2010
dbSNP: rs324420
rs324420
48 0.637 0.440 1 46405089 missense variant C/A snv 0.24 0.26 0.010 1.000 1 2010 2010
dbSNP: rs950302
rs950302
1 1.000 0.080 1 167114567 intron variant A/G snv 0.47 0.010 1.000 1 2010 2010
dbSNP: rs1022563
rs1022563
2 0.925 0.080 20 1973693 intron variant C/G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs1176744
rs1176744
19 0.708 0.240 11 113932306 missense variant A/C snv 0.33 0.36 0.010 1.000 1 2011 2011
dbSNP: rs13306221
rs13306221
4 0.851 0.120 11 27701142 intron variant C/T snv 5.9E-02 0.010 1.000 1 2011 2011
dbSNP: rs16917204
rs16917204
5 0.827 0.160 11 27646808 intron variant G/C snv 0.17 0.010 1.000 1 2011 2011
dbSNP: rs2235749
rs2235749
7 0.790 0.200 20 1979293 3 prime UTR variant G/A snv 0.37 0.010 1.000 1 2011 2011
dbSNP: rs780737633
rs780737633
F2R
1 1.000 0.080 5 76733086 synonymous variant G/A;C snv 4.0E-06; 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs910080
rs910080
4 0.851 0.120 20 1979580 3 prime UTR variant A/G snv 0.35 0.010 1.000 1 2011 2011
dbSNP: rs16917234
rs16917234
2 0.925 0.080 11 27676827 intron variant T/A;C snv 0.010 1.000 1 2012 2012