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: rs11719165
rs11719165
2 0.925 0.040 3 194865359 intergenic variant T/C snv 0.53 0.010 1.000 1 2012 2012
dbSNP: rs117829974
rs117829974
2 1.000 0.040 3 62886233 intergenic variant C/A;G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs12046844
rs12046844
2 0.925 0.040 1 65772696 regulatory region variant G/A snv 0.17 0.010 1.000 1 2012 2012
dbSNP: rs16957920
rs16957920
1 1.000 0.040 13 87710848 intergenic variant G/C snv 6.4E-02 0.010 1.000 1 2017 2017
dbSNP: rs1901440
rs1901440
2 0.925 0.040 2 133680388 intergenic variant C/A snv 0.58 0.010 1.000 1 2012 2012
dbSNP: rs2501846
rs2501846
2 1.000 0.040 1 212668592 upstream gene variant T/C snv 0.24 0.700 1.000 1 2018 2018
dbSNP: rs6478317
rs6478317
3 0.882 0.120 9 117701903 upstream gene variant G/A snv 0.010 1.000 1 2011 2011
dbSNP: rs7091672
rs7091672
2 0.925 0.040 10 118836909 intron variant T/A;C;G snv 0.010 1.000 1 2015 2015
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.100 0.909 11 2009 2017
dbSNP: rs2032582
rs2032582
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.050 1.000 5 2007 2017
dbSNP: rs1128503
rs1128503
64 0.564 0.760 7 87550285 synonymous variant A/G snv 0.54 0.63 0.020 1.000 2 2010 2014
dbSNP: rs12720066
rs12720066
2 0.925 0.040 7 87540386 intron variant A/C snv 3.9E-02 0.010 1.000 1 2018 2018
dbSNP: rs200754866
rs200754866
1 1.000 0.040 7 87536484 missense variant C/A;T snv 1.2E-05; 3.6E-05 0.010 1.000 1 2009 2009
dbSNP: rs966923314
rs966923314
1 1.000 0.040 7 87601026 5 prime UTR variant T/C snv 7.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs1260186456
rs1260186456
2 0.925 0.040 16 16102659 missense variant G/T snv 9.4E-06 0.010 1.000 1 2016 2016
dbSNP: rs17501331
rs17501331
2 0.925 0.040 16 15995584 intron variant A/G snv 7.7E-02 0.010 1.000 1 2018 2018
dbSNP: rs2074087
rs2074087
3 0.882 0.080 16 16090375 intron variant C/G snv 0.81 0.83 0.010 1.000 1 2013 2013
dbSNP: rs17822471
rs17822471
1 1.000 0.040 16 48208468 missense variant G/A snv 5.1E-02 4.8E-02 0.020 1.000 2 2013 2017
dbSNP: rs1885301
rs1885301
2 0.925 0.040 10 99781296 upstream gene variant A/G snv 0.58 0.010 1.000 1 2013 2013
dbSNP: rs3740066
rs3740066
20 0.724 0.440 10 99844450 missense variant C/G;T snv 2.4E-05; 0.34 0.010 1.000 1 2013 2013
dbSNP: rs4148396
rs4148396
2 0.925 0.040 10 99832187 intron variant T/C snv 0.65 0.010 1.000 1 2013 2013
dbSNP: rs717620
rs717620
10 0.763 0.240 10 99782821 5 prime UTR variant C/T snv 0.17 0.15 0.010 1.000 1 2013 2013
dbSNP: rs3765534
rs3765534
4 0.882 0.200 13 95163161 missense variant C/T snv 2.3E-02 1.2E-02 0.010 1.000 1 2018 2018
dbSNP: rs9561778
rs9561778
4 0.851 0.120 13 95061461 intron variant G/A;T snv 0.010 1.000 1 2009 2009
dbSNP: rs763794263
rs763794263
1 1.000 0.040 11 17432232 missense variant G/A snv 6.3E-05 3.5E-05 0.020 1.000 2 2013 2017