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: rs1020760
rs1020760
2 0.925 0.040 4 102593288 non coding transcript exon variant C/G snv 0.42 0.010 1.000 1 2016 2016
dbSNP: rs518604
rs518604
1 1.000 0.040 11 104998504 intron variant G/A snv 0.58 0.010 1.000 1 2015 2015
dbSNP: rs523104
rs523104
1 1.000 0.040 11 104998981 missense variant G/C;T snv 0.46; 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1010824
rs1010824
1 1.000 0.040 8 107239685 intergenic variant G/A snv 0.14 0.010 1.000 1 2015 2015
dbSNP: rs33980500
rs33980500
13 0.742 0.200 6 111592059 missense variant C/T snv 8.6E-02 9.7E-02 0.710 1.000 1 2010 2015
dbSNP: rs10759932
rs10759932
15 0.732 0.560 9 117702866 upstream gene variant T/C snv 0.18 0.010 1.000 1 2016 2016
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs1800925
rs1800925
37 0.627 0.560 5 132657117 non coding transcript exon variant C/G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs20541
rs20541
47 0.585 0.720 5 132660272 missense variant A/G snv 0.72 0.77 0.010 1.000 1 2011 2011
dbSNP: rs610604
rs610604
4 0.827 0.240 6 137878280 intron variant G/T snv 0.58 0.710 1.000 1 2015 2015
dbSNP: rs237025
rs237025
25 0.672 0.360 6 149400554 missense variant G/A snv 0.55 0.57 0.010 1.000 1 2008 2008
dbSNP: rs17728338
rs17728338
2 0.851 0.160 5 151098757 downstream gene variant G/A snv 7.1E-02 0.010 1.000 1 2013 2013
dbSNP: rs4845454
rs4845454
1 0.925 0.040 1 152619708 downstream gene variant C/A;T snv 0.710 1.000 1 2015 2018
dbSNP: rs4696480
rs4696480
19 0.716 0.400 4 153685974 intron variant T/A snv 0.45 0.010 1.000 1 2016 2016
dbSNP: rs3804099
rs3804099
40 0.627 0.680 4 153703504 synonymous variant T/C snv 0.40 0.48 0.010 1.000 1 2016 2016
dbSNP: rs3212227
rs3212227
65 0.566 0.840 5 159315942 3 prime UTR variant T/G snv 0.26 0.010 1.000 1 2009 2009
dbSNP: rs6887695
rs6887695
14 0.732 0.440 5 159395637 intron variant G/C snv 0.35 0.020 1.000 2 2009 2013
dbSNP: rs6704688
rs6704688
3 0.882 0.160 2 201241309 non coding transcript exon variant C/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs72474224
rs72474224
8 0.708 0.440 13 20189473 missense variant C/A;T snv 7.7E-03 0.010 1.000 1 2015 2015
dbSNP: rs4649203
rs4649203
4 0.851 0.160 1 24193430 intergenic variant G/A snv 0.61 0.010 1.000 1 2013 2013
dbSNP: rs3806265
rs3806265
3 0.882 0.160 1 247423034 intron variant T/C snv 0.41 0.010 1.000 1 2018 2018
dbSNP: rs10754557
rs10754557
1 1.000 0.040 1 247435930 intron variant G/A snv 0.59 0.51 0.010 1.000 1 2018 2018
dbSNP: rs10733113
rs10733113
3 0.882 0.160 1 247459055 upstream gene variant A/G snv 0.81 0.010 1.000 1 2018 2018
dbSNP: rs6265
rs6265
264 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.010 1.000 1 2014 2014
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.010 1.000 1 2014 2014