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: rs12720356
rs12720356
12 0.752 0.360 19 10359299 missense variant A/C;G snv 6.1E-02; 4.0E-06 0.800 1.000 3 2010 2016
dbSNP: rs12942547
rs12942547
7 0.807 0.200 17 42375526 intron variant A/G;T snv 0.700 1.000 3 2015 2017
dbSNP: rs13107325
rs13107325
34 0.776 0.520 4 102267552 missense variant C/A;T snv 4.0E-06; 4.5E-02 0.030 1.000 3 2016 2019
dbSNP: rs187238
rs187238
48 0.602 0.680 11 112164265 intron variant C/A;G snv 0.030 1.000 3 2015 2019
dbSNP: rs259964
rs259964
6 0.827 0.120 20 59249254 intron variant A/G;T snv 0.700 1.000 3 2015 2017
dbSNP: rs4821544
rs4821544
6 0.925 0.040 22 36862461 intron variant T/A;C snv 0.720 1.000 3 2008 2017
dbSNP: rs4845604
rs4845604
10 0.776 0.200 1 151829204 intron variant G/A;C;T snv 0.700 1.000 3 2015 2017
dbSNP: rs5743289
rs5743289
2 1.000 0.040 16 50722863 intron variant C/G;T snv 0.810 1.000 3 2007 2014
dbSNP: rs71559680
rs71559680
6 0.827 0.120 6 21430497 intergenic variant TAG/CAT mnv 0.700 1.000 3 2015 2017
dbSNP: rs72553867
rs72553867
2 0.925 0.080 5 150848404 missense variant C/A;T snv 4.9E-02 0.030 1.000 3 2013 2019
dbSNP: rs10114470
rs10114470
4 0.882 0.080 9 114785492 3 prime UTR variant T/A;C snv 0.710 1.000 2 2013 2014
dbSNP: rs10188217
rs10188217
2 0.925 0.080 2 60990407 intron variant T/A;C snv 0.800 1.000 2 2008 2011
dbSNP: rs10210302
rs10210302
1 1.000 0.040 2 233250193 intron variant C/A;T snv 0.810 1.000 2 2007 2010
dbSNP: rs10754558
rs10754558
20 0.695 0.480 1 247448734 3 prime UTR variant G/C;T snv 0.020 1.000 2 2014 2018
dbSNP: rs10889676
rs10889676
5 0.827 0.120 1 67256884 intron variant C/A;T snv 0.800 1.000 2 2007 2016
dbSNP: rs11195128
rs11195128
2 1.000 0.040 10 110426390 downstream gene variant C/G;T snv 0.810 1.000 2 2014 2017
dbSNP: rs11230563
rs11230563
8 0.790 0.360 11 61008737 missense variant C/G;T snv 4.2E-06; 0.31 0.700 1.000 2 2015 2016
dbSNP: rs113994136
rs113994136
7 0.827 0.240 17 42329642 missense variant C/A;T snv 0.020 1.000 2 2011 2016
dbSNP: rs11676348
rs11676348
8 0.790 0.160 2 218145423 regulatory region variant C/G;T snv 0.710 1.000 2 2015 2016
dbSNP: rs11879191
rs11879191
2 1.000 0.040 19 10402235 intron variant G/A;C snv 0.700 1.000 2 2015 2017
dbSNP: rs1289543302
rs1289543302
12 0.763 0.440 7 87536472 missense variant C/T snv 0.020 1.000 2 2016 2017
dbSNP: rs1333407770
rs1333407770
3 0.925 0.040 10 77811115 frameshift variant G/-;GG delins 0.020 1.000 2 2007 2016
dbSNP: rs1819658
rs1819658
2 1.000 0.040 10 58153390 regulatory region variant C/G;T snv 0.800 1.000 2 2010 2017
dbSNP: rs2066843
rs2066843
4 0.925 0.040 16 50711288 synonymous variant C/A;T snv 0.19 0.710 1.000 2 2006 2010
dbSNP: rs2227551
rs2227551
6 0.827 0.120 10 73909432 intron variant G/C;T snv 0.700 1.000 2 2015 2016