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: rs17119
rs17119
4 0.882 0.120 6 14719265 intron variant G/A snv 0.74 0.700 1.000 1 2017 2017
dbSNP: rs17656349
rs17656349
2 1.000 0.040 5 150226431 intron variant C/T snv 0.45 0.700 1.000 1 2017 2017
dbSNP: rs17669
rs17669
5 0.851 0.160 18 58451261 non coding transcript exon variant C/A;T snv 0.72 0.010 1.000 1 2017 2017
dbSNP: rs1801198
rs1801198
26 0.677 0.400 22 30615623 missense variant G/A;C snv 5.6E-05; 0.57 0.010 1.000 1 2017 2017
dbSNP: rs1811711
rs1811711
2 1.000 0.040 2 227805760 5 prime UTR variant C/A;G snv 0.700 1.000 1 2017 2017
dbSNP: rs200349593
rs200349593
1 1.000 0.040 11 114526440 intron variant -/C;CCACTCTCTTCCTC ins 0.700 1.000 1 2017 2017
dbSNP: rs2241877
rs2241877
1 1.000 0.040 2 233277843 intron variant A/G snv 0.69 0.010 1.000 1 2017 2017
dbSNP: rs2651244
rs2651244
2 1.000 0.040 1 70529879 upstream gene variant G/A snv 0.30 0.700 1.000 1 2017 2017
dbSNP: rs3735656
rs3735656
5 1.000 0.040 7 1541285 3 prime UTR variant C/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs3737240
rs3737240
3 0.882 0.200 1 150510879 missense variant C/T snv 0.34 0.29 0.010 1.000 1 2017 2017
dbSNP: rs4268033
rs4268033
1 1.000 0.040 7 1544037 3 prime UTR variant A/G snv 0.59 0.010 1.000 1 2017 2017
dbSNP: rs4663402
rs4663402
4 0.851 0.080 2 233285017 intron variant A/T snv 5.1E-02 0.010 1.000 1 2017 2017
dbSNP: rs4663421
rs4663421
3 0.882 0.080 2 233293054 intron variant G/C snv 7.8E-02 0.010 1.000 1 2017 2017
dbSNP: rs4676408
rs4676408
2 1.000 0.040 2 240634984 downstream gene variant G/A;T snv 0.57 0.700 1.000 1 2017 2017
dbSNP: rs6543115
rs6543115
1 1.000 0.040 2 102311181 upstream gene variant C/A;G snv 0.010 1.000 1 2017 2017
dbSNP: rs6543116
rs6543116
3 0.882 0.120 2 102311266 upstream gene variant A/G snv 0.76 0.010 1.000 1 2017 2017
dbSNP: rs6737398
rs6737398
2 0.925 0.040 2 233261751 intron variant G/A snv 0.62 0.010 1.000 1 2017 2017
dbSNP: rs6740847
rs6740847
8 0.925 0.040 2 181443625 intergenic variant A/G snv 0.57 0.700 1.000 1 2017 2017
dbSNP: rs7911117
rs7911117
1 1.000 0.040 10 26890667 regulatory region variant T/G snv 0.18 0.700 1.000 1 2017 2017
dbSNP: rs8124792
rs8124792
6 0.827 0.120 20 54150268 downstream gene variant G/A snv 7.8E-02 0.010 1.000 1 2017 2017
dbSNP: rs9606756
rs9606756
7 0.790 0.160 22 30610873 missense variant A/G snv 0.12 0.14 0.010 1.000 1 2017 2017
dbSNP: rs11236797
rs11236797
8 0.790 0.200 11 76588605 upstream gene variant C/A snv 0.39 0.700 1.000 2 2016 2017
dbSNP: rs11614178
rs11614178
6 0.827 0.120 12 68114342 intron variant G/A;T snv 0.26 0.700 1.000 2 2016 2017
dbSNP: rs1457092
rs1457092
8 0.790 0.320 19 17193427 intron variant C/A snv 0.44 0.020 1.000 2 2016 2016
dbSNP: rs153109
rs153109
37 0.623 0.600 16 28507775 intron variant T/C snv 0.43 0.020 1.000 2 2016 2017