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: rs4986790
rs4986790
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.090 0.778 9 2004 2019
dbSNP: rs4986791
rs4986791
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.060 0.667 6 2004 2019
dbSNP: rs5743708
rs5743708
98 0.525 0.800 4 153705165 missense variant G/A snv 1.7E-02 1.8E-02 0.020 0.500 2 2004 2010
dbSNP: rs1131498
rs1131498
13 0.732 0.360 1 169707345 missense variant A/G snv 0.21 0.22 0.010 1.000 1 2009 2009
dbSNP: rs1458766475
rs1458766475
41 0.637 0.680 1 169732649 missense variant C/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs5361
rs5361
47 0.623 0.720 1 169731919 missense variant T/G snv 8.3E-02; 8.0E-06 7.8E-02 0.010 1.000 1 2009 2009
dbSNP: rs1035029
rs1035029
C5
2 1.000 0.040 9 120980540 intron variant G/A snv 0.63 0.010 1.000 1 2010 2010
dbSNP: rs1537415
rs1537415
4 0.851 0.040 9 135637876 intron variant G/C snv 0.36 0.810 1.000 1 2010 2010
dbSNP: rs17611
rs17611
C5
14 0.732 0.480 9 121006922 missense variant C/T snv 0.47 0.36 0.010 1.000 1 2010 2010
dbSNP: rs20417
rs20417
57 0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs25681
rs25681
C5
3 0.882 0.120 9 121017727 synonymous variant G/A snv 0.47 0.35 0.010 1.000 1 2010 2010
dbSNP: rs6681231
rs6681231
5 0.882 0.120 1 186690727 intergenic variant G/C snv 0.22 0.010 1.000 1 2010 2010
dbSNP: rs689466
rs689466
33 0.637 0.640 1 186681619 upstream gene variant T/C snv 0.17 0.010 1.000 1 2010 2010
dbSNP: rs992670
rs992670
C5
3 0.882 0.120 9 121019492 intron variant G/A snv 0.52 0.010 1.000 1 2010 2010
dbSNP: rs1800629
rs1800629
TNF
169 0.472 0.920 6 31575254 upstream gene variant G/A snv 0.12 0.14 0.010 1.000 1 2011 2011
dbSNP: rs1801275
rs1801275
58 0.581 0.680 16 27363079 missense variant A/G snv 0.25 0.36 0.010 1.000 1 2011 2011
dbSNP: rs10760187
rs10760187
2 0.925 0.040 9 121803541 intergenic variant T/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs11536889
rs11536889
27 0.658 0.560 9 117715853 3 prime UTR variant G/C snv 0.11 0.010 1.000 1 2012 2012
dbSNP: rs11621969
rs11621969
2 0.925 0.040 14 75347325 intergenic variant T/C snv 0.14 0.700 1.000 1 2012 2012
dbSNP: rs11800854
rs11800854
2 0.925 0.040 1 233584238 intergenic variant G/A snv 0.11 0.700 1.000 1 2012 2012
dbSNP: rs12032672
rs12032672
3 0.925 0.040 1 88159953 intron variant A/C snv 0.37 0.700 1.000 1 2012 2012
dbSNP: rs1523128
rs1523128
3 0.882 0.080 3 119781817 5 prime UTR variant A/G snv 0.89 0.010 1.000 1 2012 2012
dbSNP: rs1932040
rs1932040
2 0.925 0.040 6 45729051 TF binding site variant A/G snv 0.69 0.700 1.000 1 2012 2012
dbSNP: rs2125685
rs2125685
1 1.000 0.040 1 161673254 intron variant A/G;T snv 0.20 0.43 0.010 1.000 1 2012 2012
dbSNP: rs2234663
rs2234663
14 0.716 0.480 2 113130529 intron variant ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC/-;ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC;ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC;ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC delins 0.010 1.000 1 2012 2012