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: rs147445322
rs147445322
4 0.882 0.120 11 2847803 missense variant G/A;T snv 7.2E-05; 5.5E-06 0.700 1.000 1 2018 2018
dbSNP: rs2054576
rs2054576
4 0.882 0.160 4 88107623 intron variant A/G snv 7.8E-02 0.010 1.000 1 2017 2017
dbSNP: rs2941484
rs2941484
4 0.882 0.160 8 75566533 3 prime UTR variant C/T snv 0.52 0.010 1.000 1 2017 2017
dbSNP: rs4684846
rs4684846
3 0.882 0.080 3 12297350 intron variant A/G snv 0.28 0.010 1.000 1 2013 2013
dbSNP: rs475688
rs475688
3 0.882 0.160 11 64596819 intron variant C/T snv 0.25 0.010 1.000 1 2018 2018
dbSNP: rs505802
rs505802
4 0.882 0.160 11 64589600 upstream gene variant T/C snv 0.45 0.010 1.000 1 2013 2013
dbSNP: rs545854
rs545854
4 0.882 0.160 8 10002570 intron variant G/C snv 0.85 0.010 1.000 1 2019 2019
dbSNP: rs7903456
rs7903456
3 0.882 0.160 10 87159562 intron variant C/T snv 0.69 0.010 1.000 1 2018 2018
dbSNP: rs893006
rs893006
3 0.882 0.160 11 64598324 intron variant C/A snv 0.61 0.010 1.000 1 2009 2009
dbSNP: rs141310123
rs141310123
4 0.925 0.120 18 79411390 missense variant C/A;T snv 2.1E-04; 4.8E-06 0.700 1.000 1 2018 2018
dbSNP: rs149454410
rs149454410
5 0.925 0.120 4 9942000 missense variant C/G;T snv 4.0E-05; 3.2E-04 0.700 1.000 1 2018 2018
dbSNP: rs149722479
rs149722479
2 0.925 0.200 11 64592788 missense variant G/A;C snv 4.8E-05; 9.6E-05 0.700 1.000 1 2018 2018
dbSNP: rs1653624
rs1653624
2 0.925 0.120 12 121184717 missense variant T/A snv 1.5E-02 0.010 1.000 1 2017 2017
dbSNP: rs1822825
rs1822825
2 0.925 0.080 3 12408464 intron variant G/A snv 0.61 0.010 1.000 1 2013 2013
dbSNP: rs186459505
rs186459505
5 0.925 0.120 3 52907083 missense variant G/A;T snv 1.1E-04; 4.0E-06 0.700 1.000 1 2018 2018
dbSNP: rs200469773
rs200469773
2 0.925 0.120 2 169237232 missense variant C/T snv 4.0E-05 4.2E-05 0.700 1.000 1 2018 2018
dbSNP: rs2544390
rs2544390
4 0.925 0.080 2 169348336 intron variant C/T snv 0.45 0.010 1.000 1 2013 2013
dbSNP: rs28934583
rs28934583
2 0.925 0.240 16 20348652 missense variant A/C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs6837293
rs6837293
2 0.925 0.160 4 81141777 intron variant C/A;T snv 0.010 1.000 1 2009 2009
dbSNP: rs72552713
rs72552713
2 0.925 0.040 4 88131805 stop gained G/A snv 4.0E-04 1.2E-04 0.010 1.000 1 2018 2018
dbSNP: rs7688672
rs7688672
2 0.925 0.160 4 81148295 intron variant G/A snv 0.39 0.010 1.000 1 2009 2009
dbSNP: rs1025993235
rs1025993235
1 1.000 0.040 17 18865880 missense variant C/T snv 0.010 1.000 1 2011 2011
dbSNP: rs11554266
rs11554266
4 1.000 0.040 20 58903791 splice region variant C/G;T snv 4.0E-06; 2.3E-03 0.700 1.000 1 2018 2018
dbSNP: rs1209613132
rs1209613132
1 1.000 0.040 7 94404745 missense variant C/T snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs1230053514
rs1230053514
1 1.000 0.040 11 64598551 missense variant C/T snv 0.010 1.000 1 2011 2011