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: rs2954029
rs2954029
14 0.807 0.160 8 125478730 intron variant A/T snv 0.42 0.800 1.000 8 2010 2019
dbSNP: rs3764261
rs3764261
26 0.732 0.280 16 56959412 upstream gene variant C/A snv 0.31 0.800 1.000 8 2010 2019
dbSNP: rs629301
rs629301
22 0.851 0.120 1 109275684 3 prime UTR variant G/T snv 0.74 0.800 1.000 7 2010 2019
dbSNP: rs6511720
rs6511720
15 0.790 0.120 19 11091630 intron variant G/T snv 0.12 0.800 1.000 7 2010 2019
dbSNP: rs10401969
rs10401969
25 0.776 0.240 19 19296909 intron variant T/C snv 0.10 0.800 1.000 6 2010 2018
dbSNP: rs1367117
rs1367117
8 1.000 0.080 2 21041028 missense variant G/A snv 0.26 0.24 0.800 1.000 6 2010 2019
dbSNP: rs2000999
rs2000999
7 1.000 0.080 16 72074194 intron variant G/A snv 0.16 0.800 1.000 6 2010 2018
dbSNP: rs9987289
rs9987289
10 1.000 0.040 8 9325848 non coding transcript exon variant A/G snv 0.87 0.800 1.000 6 2010 2019
dbSNP: rs1800961
rs1800961
21 0.851 0.160 20 44413724 missense variant C/T snv 3.1E-02 2.5E-02 0.800 1.000 5 2010 2018
dbSNP: rs1883025
rs1883025
13 0.807 0.120 9 104902020 intron variant C/T snv 0.28 0.800 1.000 5 2010 2018
dbSNP: rs2479409
rs2479409
4 1.000 0.040 1 55038977 upstream gene variant G/A snv 0.66 0.800 1.000 5 2010 2018
dbSNP: rs4299376
rs4299376
11 0.851 0.120 2 43845437 intron variant G/C;T snv 0.800 1.000 5 2010 2019
dbSNP: rs6882076
rs6882076
9 0.827 0.160 5 156963286 upstream gene variant T/C snv 0.56 0.800 1.000 5 2010 2019
dbSNP: rs11220462
rs11220462
3 11 126374057 intron variant G/A snv 0.12 0.800 1.000 4 2010 2018
dbSNP: rs1169288
rs1169288
21 0.776 0.160 12 120978847 missense variant A/C;T snv 0.35 0.800 1.000 4 2010 2018
dbSNP: rs1564348
rs1564348
3 6 160157828 intron variant T/C snv 0.14 0.800 1.000 4 2010 2019
dbSNP: rs174546
rs174546
17 0.807 0.200 11 61802358 3 prime UTR variant C/T snv 0.28 0.800 1.000 4 2010 2019
dbSNP: rs2131925
rs2131925
6 1 62560271 intron variant G/T snv 0.57 0.800 1.000 4 2010 2019
dbSNP: rs2255141
rs2255141
5 10 112174128 intron variant A/G;T snv 0.800 1.000 4 2010 2019
dbSNP: rs2814982
rs2814982
2 6 34578783 upstream gene variant C/G;T snv 0.800 1.000 4 2010 2018
dbSNP: rs3177928
rs3177928
8 0.882 0.120 6 32444658 3 prime UTR variant G/A snv 0.13 0.800 1.000 4 2010 2018
dbSNP: rs3757354
rs3757354
3 6 16127176 upstream gene variant C/T snv 0.27 0.800 1.000 4 2010 2018
dbSNP: rs635634
rs635634
22 0.882 0.160 9 133279427 upstream gene variant T/A;C snv 0.800 1.000 4 2010 2019
dbSNP: rs7206971
rs7206971
3 17 47347749 intron variant G/A;T snv 0.47 0.800 1.000 4 2010 2018
dbSNP: rs10128711
rs10128711
2 11 18611437 intron variant T/C snv 0.64 0.55 0.800 1.000 3 2010 2018