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: rs10883437
rs10883437
3 1.000 0.040 10 100035604 regulatory region variant T/A;G snv 0.43 0.010 1.000 1 2019 2019
dbSNP: rs4149313
rs4149313
9 0.763 0.240 9 104824472 missense variant T/C snv 0.010 1.000 1 2019 2019
dbSNP: rs4149267
rs4149267
1 1.000 0.040 9 104889664 intron variant T/C snv 0.47 0.010 1.000 1 2018 2018
dbSNP: rs2454206
rs2454206
6 0.851 0.160 4 105275794 missense variant A/G;T snv 0.30; 6.4E-06 0.010 1.000 1 2015 2015
dbSNP: rs2236212
rs2236212
2 1.000 0.040 6 10994782 intron variant G/C snv 0.39 0.010 1.000 1 2019 2019
dbSNP: rs768007422
rs768007422
1 1.000 0.040 13 111277667 missense variant C/G snv 0.010 1.000 1 2020 2020
dbSNP: rs671
rs671
116 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 0.010 1.000 1 2016 2016
dbSNP: rs4374383
rs4374383
10 0.776 0.200 2 112013193 intron variant A/G snv 0.58 0.030 1.000 3 2016 2019
dbSNP: rs694539
rs694539
10 0.776 0.200 11 114262697 intron variant C/T snv 0.21 0.010 1.000 1 2018 2018
dbSNP: rs3135507
rs3135507
3 0.925 0.120 11 116790772 missense variant C/T snv 5.0E-02 5.5E-02 0.010 < 0.001 1 2018 2018
dbSNP: rs662799
rs662799
33 0.689 0.480 11 116792991 upstream gene variant G/A snv 0.90 0.010 < 0.001 1 2018 2018
dbSNP: rs17120035
rs17120035
1 1.000 0.040 11 116793135 upstream gene variant C/T snv 6.4E-02 0.010 < 0.001 1 2018 2018
dbSNP: rs10750097
rs10750097
6 1.000 0.040 11 116793324 upstream gene variant G/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs1263173
rs1263173
4 0.925 0.080 11 116810292 downstream gene variant G/A snv 0.53 0.010 1.000 1 2018 2018
dbSNP: rs2854117
rs2854117
6 0.851 0.200 11 116829426 upstream gene variant T/A;C snv 0.060 1.000 6 2010 2016
dbSNP: rs2854116
rs2854116
7 0.807 0.200 11 116829453 upstream gene variant C/T snv 0.51 0.060 1.000 6 2010 2018
dbSNP: rs2070667
rs2070667
2 1.000 0.040 11 116830953 intron variant G/A;C;T snv 0.010 1.000 1 2016 2016
dbSNP: rs2070666
rs2070666
4 0.882 0.120 11 116830958 intron variant T/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs236918
rs236918
10 0.776 0.160 11 117220893 non coding transcript exon variant G/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs200848339
rs200848339
1 1.000 0.040 9 117713001 synonymous variant A/G snv 2.4E-05 0.010 1.000 1 2016 2016
dbSNP: rs4986790
rs4986790
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.020 0.500 2 2014 2016
dbSNP: rs4986791
rs4986791
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.010 < 0.001 1 2016 2016
dbSNP: rs13412852
rs13412852
4 0.851 0.120 2 11774815 intron variant C/T snv 0.26 0.010 1.000 1 2012 2012
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.050 0.600 5 2013 2016
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.050 0.600 5 2007 2016