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: 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: rs26653
rs26653
4 0.882 0.080 5 96803547 missense variant C/A;G;T snv 0.64; 8.0E-06; 9.1E-04 0.020 1.000 2 2018 2018
dbSNP: rs27524
rs27524
4 0.851 0.160 5 96766240 intron variant A/G snv 0.61 0.020 1.000 2 2013 2018
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: rs4722404
rs4722404
4 0.851 0.120 7 3089155 intron variant T/C snv 0.40 0.020 1.000 2 2016 2017
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: rs610604
rs610604
5 0.827 0.240 6 137878280 intron variant G/T snv 0.58 0.710 1.000 2 2015 2015
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: rs1010824
rs1010824
1 1.000 0.040 8 107239685 intergenic variant G/A snv 0.14 0.010 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: rs1056198
rs1056198
2 0.925 0.040 20 49939692 intron variant C/T snv 0.34 0.700 1.000 1 2015 2015
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: 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: 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: rs10865331
rs10865331
5 0.827 0.120 2 62324337 intergenic variant A/G snv 0.57 0.700 1.000 1 2015 2015
dbSNP: rs11652075
rs11652075
3 0.882 0.040 17 80205094 missense variant C/T snv 0.41 0.40 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: rs12445568
rs12445568
2 0.925 0.040 16 30993491 splice region variant T/C snv 0.39 0.38 0.700 1.000 1 2015 2015
dbSNP: rs12489120
rs12489120
1 1.000 0.040 3 4978778 intron variant C/A;G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs1250544
rs1250544
3 0.882 0.080 10 79273128 intron variant G/A snv 0.32 0.700 1.000 1 2015 2015
dbSNP: rs12884468
rs12884468
2 0.925 0.040 14 35383280 downstream gene variant T/C snv 0.47 0.700 1.000 1 2015 2015
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: rs17716942
rs17716942
2 0.925 0.040 2 162404181 intron variant T/C snv 9.6E-02 0.700 1.000 1 2015 2015
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: rs1799864
rs1799864
68 0.572 0.680 3 46357717 missense variant G/A snv 0.13 0.12 0.010 1.000 1 2017 2017