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: 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: 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: 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: 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: rs6887695
rs6887695
14 0.732 0.440 5 159395637 intron variant G/C snv 0.35 0.020 1.000 2 2009 2013
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: rs3135388
rs3135388
7 0.807 0.240 6 32445274 downstream gene variant A/G snv 0.90 0.010 1.000 1 2013 2013
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: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.010 1.000 1 2014 2014
dbSNP: rs6474412
rs6474412
4 0.925 0.120 8 42695355 upstream gene variant C/T snv 0.64 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
dbSNP: rs9264942
rs9264942
15 0.763 0.400 6 31306603 intron variant T/C snv 0.34 0.010 1.000 1 2014 2014
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: rs610604
rs610604
5 0.827 0.240 6 137878280 intron variant G/T snv 0.58 0.710 1.000 2 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: rs1056198
rs1056198
2 0.925 0.040 20 49939692 intron variant C/T snv 0.34 0.700 1.000 1 2015 2015
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: 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: rs181359
rs181359
3 0.882 0.080 22 21574352 intron variant G/A snv 0.21 0.700 1.000 1 2015 2015