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: rs1384936174
rs1384936174
6 0.827 0.040 16 50710812 missense variant G/A;T snv 4.0E-06; 4.0E-06 0.040 0.750 4 2008 2019
dbSNP: rs254560
rs254560
2 1.000 0.040 5 135107916 intron variant G/A snv 0.32 0.800 1.000 4 2011 2017
dbSNP: rs7554511
rs7554511
3 0.925 0.040 1 200908434 intron variant C/A snv 0.22 0.800 1.000 4 2009 2017
dbSNP: rs10781499
rs10781499
3 0.925 0.040 9 136371953 synonymous variant G/A snv 0.41 0.38 0.800 1.000 3 2011 2017
dbSNP: rs11150589
rs11150589
2 1.000 0.040 16 30471173 upstream gene variant T/A;C;G snv 0.800 1.000 3 2012 2017
dbSNP: rs12568930
rs12568930
4 1.000 0.040 1 22375738 intergenic variant T/C snv 0.21 0.800 1.000 3 2009 2017
dbSNP: rs16940202
rs16940202
2 1.000 0.040 16 85980635 intron variant T/C snv 0.15 0.800 1.000 3 2011 2017
dbSNP: rs28374715
rs28374715
1 1.000 0.040 15 41271752 intron variant A/G snv 0.25 0.800 1.000 3 2012 2017
dbSNP: rs4380874
rs4380874
2 1.000 0.040 7 107839870 intergenic variant T/A;C;G snv 0.800 1.000 3 2012 2017
dbSNP: rs483905
rs483905
2 1.000 0.040 11 96290263 intron variant G/A snv 0.26 0.800 1.000 3 2012 2017
dbSNP: rs798502
rs798502
4 1.000 0.040 7 2750246 intron variant A/C;G snv 0.800 1.000 3 2011 2017
dbSNP: rs10185424
rs10185424
2 0.925 0.040 2 102046427 intron variant T/G snv 0.62 0.710 1.000 2 2015 2016
dbSNP: rs10761659
rs10761659
3 0.925 0.040 10 62685804 intron variant A/G snv 0.43 0.700 1.000 2 2015 2017
dbSNP: rs10797432
rs10797432
2 1.000 0.040 1 2569899 downstream gene variant C/T snv 0.51 0.800 1.000 2 2012 2017
dbSNP: rs11739663
rs11739663
1 1.000 0.040 5 593968 intergenic variant T/C snv 0.29 0.800 1.000 2 2011 2012
dbSNP: rs11742570
rs11742570
3 0.925 0.040 5 40410482 upstream gene variant T/C;G snv 0.700 1.000 2 2015 2017
dbSNP: rs1297265
rs1297265
2 0.925 0.040 21 15444732 intron variant A/G snv 0.44 0.810 1.000 2 2011 2013
dbSNP: rs1333407770
rs1333407770
3 0.925 0.040 10 77811115 frameshift variant G/-;GG delins 0.020 0.500 2 2007 2016
dbSNP: rs1523127
rs1523127
3 0.925 0.040 3 119782192 5 prime UTR variant C/A snv 0.48 0.020 1.000 2 2011 2011
dbSNP: rs17229285
rs17229285
2 1.000 0.040 2 198658398 intron variant C/A;T snv 0.800 1.000 2 2012 2015
dbSNP: rs17694108
rs17694108
3 0.925 0.040 19 33240645 regulatory region variant G/A snv 0.22 0.700 1.000 2 2015 2017
dbSNP: rs2108225
rs2108225
2 1.000 0.040 7 107812658 downstream gene variant G/A;T snv 0.810 1.000 2 2009 2018
dbSNP: rs2289310
rs2289310
3 0.925 0.040 10 77811115 missense variant G/A;C;T snv 4.0E-06; 8.0E-06; 5.7E-02 0.020 0.500 2 2007 2016
dbSNP: rs2413583
rs2413583
3 0.925 0.040 22 39263768 intron variant C/T snv 0.19 0.700 1.000 2 2015 2017
dbSNP: rs2823286
rs2823286
3 0.925 0.040 21 15445619 intron variant G/A snv 0.28 0.700 1.000 2 2015 2017