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: rs4683946
rs4683946
2 0.925 0.080 3 101896982 intron variant G/T snv 0.19 0.700 1.000 1 2015 2015
dbSNP: rs7637230
rs7637230
2 0.925 0.040 3 101944711 intron variant A/G;T snv 0.700 1.000 1 2015 2015
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: rs34536443
rs34536443
25 0.667 0.400 19 10352442 missense variant G/C snv 2.7E-02 2.8E-02 0.700 1.000 1 2015 2015
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: rs892085
rs892085
2 0.925 0.040 19 10707416 intron variant G/A snv 0.57 0.59 0.700 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: rs4561177
rs4561177
6 0.807 0.120 11 110091706 intron variant A/G snv 0.36 0.700 1.000 1 2015 2015
dbSNP: rs33980500
rs33980500
14 0.742 0.200 6 111592059 missense variant C/T snv 8.6E-02 9.7E-02 0.710 1.000 2 2010 2015
dbSNP: rs367569
rs367569
6 0.807 0.120 16 11271643 intron variant C/T snv 0.32 0.700 1.000 1 2015 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: rs3802826
rs3802826
2 0.925 0.040 11 128536543 non coding transcript exon variant A/G;T snv 0.700 1.000 1 2015 2015
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
52 0.585 0.720 5 132660272 missense variant A/G snv 0.72 0.77 0.010 1.000 1 2011 2011
dbSNP: rs1295685
rs1295685
7 0.790 0.160 5 132660753 3 prime UTR variant A/G snv 0.81 0.700 1.000 1 2015 2015
dbSNP: rs610604
rs610604
5 0.827 0.240 6 137878280 intron variant G/T snv 0.58 0.710 1.000 2 2015 2015
dbSNP: rs237025
rs237025
26 0.672 0.360 6 149400554 missense variant G/A snv 0.55 0.57 0.010 1.000 1 2008 2008
dbSNP: rs2233278
rs2233278
2 0.925 0.040 5 151087628 5 prime UTR variant G/C;T snv 4.8E-02 0.700 1.000 2 2015 2018
dbSNP: rs17728338
rs17728338
4 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
2 0.925 0.040 1 152619708 downstream gene variant C/A;T snv 0.710 1.000 2 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