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: rs1041163
rs1041163
3 0.882 0.160 1 100718269 upstream gene variant T/C snv 0.18 0.010 1.000 1 2016 2016
dbSNP: rs35068180
rs35068180
5 0.851 0.040 11 102845217 upstream gene variant A/-;AA delins 0.010 1.000 1 2015 2015
dbSNP: rs5498
rs5498
99 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 0.010 1.000 1 2016 2016
dbSNP: rs7086701
rs7086701
2 0.925 0.040 10 10298081 intergenic variant G/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs1370967
rs1370967
2 0.925 0.040 5 111203694 intergenic variant G/A snv 7.8E-02 0.700 1.000 1 2013 2013
dbSNP: rs187238
rs187238
48 0.602 0.680 11 112164265 intron variant C/A;G snv 0.010 1.000 1 2017 2017
dbSNP: rs1946518
rs1946518
46 0.602 0.760 11 112164735 intron variant T/G snv 0.60 0.010 1.000 1 2017 2017
dbSNP: rs17561
rs17561
23 0.672 0.560 2 112779646 missense variant C/A snv 0.27 0.26 0.010 1.000 1 2016 2016
dbSNP: rs1143634
rs1143634
52 0.597 0.680 2 112832813 synonymous variant G/A snv 0.19 0.19 0.010 1.000 1 2016 2016
dbSNP: rs16944
rs16944
92 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 0.010 1.000 1 2017 2017
dbSNP: rs2723183
rs2723183
2 1.000 0.040 2 112917144 missense variant A/G snv 6.8E-02 1.0E-01 0.010 1.000 1 2020 2020
dbSNP: rs419598
rs419598
13 0.742 0.280 2 113129630 synonymous variant T/C snv 0.26 0.21 0.010 1.000 1 2017 2017
dbSNP: rs2234663
rs2234663
14 0.716 0.480 2 113130529 intron variant ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC/-;ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC;ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC;ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC delins 0.010 1.000 1 2012 2012
dbSNP: rs2737190
rs2737190
6 0.827 0.120 9 117701903 upstream gene variant G/A snv 0.52 0.010 1.000 1 2019 2019
dbSNP: rs1927911
rs1927911
28 0.658 0.640 9 117707776 intron variant A/G snv 0.62 0.010 1.000 1 2019 2019
dbSNP: rs2149356
rs2149356
14 0.742 0.360 9 117711921 intron variant T/G snv 0.54 0.010 1.000 1 2019 2019
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: 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: rs7873784
rs7873784
11 0.752 0.440 9 117716658 3 prime UTR variant G/A;C;T snv 0.010 1.000 1 2019 2019
dbSNP: rs3102735
rs3102735
12 0.752 0.400 8 118952831 upstream gene variant T/C snv 0.17 0.010 1.000 1 2019 2019
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: rs6785049
rs6785049
4 0.882 0.080 3 119814886 intron variant G/A;T snv 0.46 0.010 1.000 1 2012 2012
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: 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