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: rs1167846
rs1167846
1 1.000 0.040 6 137022583 intron variant T/C snv 0.61 0.010 1.000 1 2008 2008
dbSNP: rs1167849
rs1167849
1 1.000 0.040 6 137027888 intron variant A/G snv 0.57 0.010 1.000 1 2008 2008
dbSNP: rs1217414
rs1217414
3 0.882 0.120 1 113870045 non coding transcript exon variant G/A snv 0.36 0.010 1.000 1 2008 2008
dbSNP: rs1284037740
rs1284037740
1 1.000 0.040 3 122337642 synonymous variant C/T snv 0.010 1.000 1 2008 2008
dbSNP: rs1800925
rs1800925
37 0.627 0.560 5 132657117 non coding transcript exon variant C/G;T snv 0.010 1.000 1 2008 2008
dbSNP: rs2280714
rs2280714
10 0.752 0.440 7 128954671 3 prime UTR variant C/T snv 0.64 0.010 1.000 1 2008 2008
dbSNP: rs237025
rs237025
26 0.672 0.360 6 149400554 missense variant G/A snv 0.55 0.57 0.010 < 0.001 1 2008 2008
dbSNP: rs281860350
rs281860350
1 1.000 0.040 6 31271780 synonymous variant G/A snv 0.010 1.000 1 2008 2008
dbSNP: rs3789604
rs3789604
9 0.776 0.360 1 113812320 synonymous variant T/A;C;G snv 8.5E-06; 1.3E-05; 0.17 0.010 1.000 1 2008 2008
dbSNP: rs3803369
rs3803369
2 0.925 0.040 15 51083632 intron variant T/A;C snv 0.010 1.000 1 2008 2008
dbSNP: rs512625
rs512625
2 0.925 0.120 20 3667731 upstream gene variant A/G;T snv 0.010 < 0.001 1 2008 2008
dbSNP: rs527418169
rs527418169
1 1.000 0.040 8 104093501 missense variant G/A;T snv 4.4E-06; 4.4E-06 0.010 1.000 1 2008 2008
dbSNP: rs550084704
rs550084704
1 1.000 0.040 17 81126523 missense variant G/A snv 4.0E-05 8.4E-05 0.010 1.000 1 2008 2008
dbSNP: rs558671948
rs558671948
1 1.000 0.040 17 81121922 missense variant C/T snv 1.3E-05 5.6E-05 0.010 1.000 1 2008 2008
dbSNP: rs628977
rs628977
4 0.851 0.160 20 3669074 intron variant T/C snv 0.65 0.010 < 0.001 1 2008 2008
dbSNP: rs6701216
rs6701216
2 0.925 0.040 1 152806050 intron variant C/T snv 0.21 0.010 1.000 1 2008 2008
dbSNP: rs766578118
rs766578118
1 1.000 0.040 17 82830615 missense variant C/G;T snv 3.2E-05; 3.2E-05 0.010 1.000 1 2008 2008
dbSNP: rs772818947
rs772818947
1 1.000 0.040 17 81122231 missense variant C/T snv 2.0E-05 1.4E-05 0.010 1.000 1 2008 2008
dbSNP: rs77875845
rs77875845
1 1.000 0.040 17 81231983 missense variant C/T snv 2.6E-03 9.5E-04 0.010 1.000 1 2008 2008
dbSNP: rs7993214
rs7993214
2 0.925 0.040 13 39776775 intron variant T/C;G snv 0.010 1.000 1 2008 2008
dbSNP: rs610604
rs610604
5 0.827 0.240 6 137878280 intron variant G/T snv 0.58 0.860 1.000 10 2009 2015
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.080 0.875 8 2009 2018
dbSNP: rs17728338
rs17728338
4 0.851 0.160 5 151098757 downstream gene variant G/A snv 7.1E-02 0.820 1.000 7 2009 2015
dbSNP: rs12191877
rs12191877
7 0.851 0.120 6 31285148 intron variant C/T snv 0.12 0.830 1.000 5 2009 2015
dbSNP: rs2066808
rs2066808
8 0.807 0.280 12 56344189 intron variant A/G snv 0.21 0.810 1.000 5 2009 2015