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: rs2165047
rs2165047
2 1.000 0.040 10 77791882 3 prime UTR variant C/T snv 0.26 0.010 1.000 1 2007 2007
dbSNP: rs2274907
rs2274907
5 0.851 0.200 1 160882036 missense variant A/G;T snv 0.66 0.010 1.000 1 2007 2007
dbSNP: rs3814055
rs3814055
4 0.925 0.040 3 119781188 5 prime UTR variant C/T snv 0.35 0.010 1.000 1 2007 2007
dbSNP: rs4804803
rs4804803
15 0.732 0.360 19 7747847 upstream gene variant A/G snv 0.26 0.010 1.000 1 2007 2007
dbSNP: rs62636489
rs62636489
3 0.925 0.040 12 52898860 missense variant G/A snv 7.6E-05 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs901312933
rs901312933
4 0.882 0.120 2 233282746 missense variant G/A;T snv 0.010 1.000 1 2007 2007
dbSNP: rs3197999
rs3197999
16 0.732 0.280 3 49684099 missense variant G/A snv 0.26 0.27 0.850 1.000 7 2008 2017
dbSNP: rs1801282
rs1801282
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.040 0.750 4 2008 2012
dbSNP: rs1805192
rs1805192
121 0.510 0.840 3 12379739 missense variant C/G snv 0.040 0.750 4 2008 2012
dbSNP: rs7574865
rs7574865
59 0.574 0.720 2 191099907 intron variant T/G snv 0.79 0.040 1.000 4 2008 2015
dbSNP: rs2836878
rs2836878
7 0.851 0.200 21 39093608 intergenic variant G/A snv 0.23 0.800 1.000 3 2008 2017
dbSNP: rs4821544
rs4821544
6 0.925 0.040 22 36862461 intron variant T/A;C snv 0.020 1.000 2 2008 2015
dbSNP: rs6887695
rs6887695
14 0.732 0.440 5 159395637 intron variant G/C snv 0.35 0.020 1.000 2 2008 2012
dbSNP: rs763780
rs763780
87 0.531 0.720 6 52236941 missense variant T/C snv 6.7E-02 6.6E-02 0.020 0.500 2 2008 2017
dbSNP: rs917997
rs917997
20 0.701 0.480 2 102454108 downstream gene variant T/A;C snv 0.810 1.000 2 2008 2012
dbSNP: rs1292975971
rs1292975971
3 0.925 0.040 16 50711664 synonymous variant C/T snv 4.0E-06 1.4E-05 0.010 1.000 1 2008 2008
dbSNP: rs13361189
rs13361189
13 0.752 0.240 5 150843825 upstream gene variant T/C snv 0.21 0.010 1.000 1 2008 2008
dbSNP: rs1369602268
rs1369602268
2 1.000 0.040 16 50707883 missense variant T/C snv 0.010 1.000 1 2008 2008
dbSNP: rs2277680
rs2277680
10 0.776 0.160 17 4735268 missense variant G/A snv 0.47 0.41 0.010 1.000 1 2008 2008
dbSNP: rs2315008
rs2315008
4 0.925 0.120 20 63712604 intron variant T/G snv 0.70 0.800 1.000 1 2008 2008
dbSNP: rs273506
rs273506
1 19 18110837 intron variant C/A;T snv 0.010 1.000 1 2008 2008
dbSNP: rs35873774
rs35873774
3 0.925 0.040 22 28795944 intron variant A/G snv 4.6E-02 0.010 1.000 1 2008 2008
dbSNP: rs376377228
rs376377228
3 0.925 0.040 1 67182950 missense variant A/G snv 1.6E-05 2.1E-05 0.010 < 0.001 1 2008 2008
dbSNP: rs477515
rs477515
10 0.790 0.400 6 32601914 intergenic variant G/A snv 0.27 0.800 1.000 1 2008 2008
dbSNP: rs4958847
rs4958847
8 0.807 0.120 5 150860025 intron variant G/A snv 0.25 0.010 1.000 1 2008 2008