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: 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: 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
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: rs1799864
rs1799864
66 0.572 0.680 3 46357717 missense variant G/A snv 0.13 0.12 0.010 1.000 1 2017 2017
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: rs3918242
rs3918242
53 0.602 0.680 20 46007337 upstream gene variant C/T snv 0.14 0.010 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: 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: rs333
rs333
23 0.667 0.520 3 46373453 frameshift variant GTCAGTATCAATTCTGGAAGAATTTCCAGACA/- delins 7.3E-02 0.010 1.000 1 2020 2020
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: 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: rs4696480
rs4696480
19 0.716 0.400 4 153685974 intron variant T/A snv 0.45 0.010 1.000 1 2016 2016
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: 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: rs30187
rs30187
14 0.732 0.360 5 96788627 missense variant T/A;C snv 0.62 0.010 1.000 1 2018 2018
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: rs9264942
rs9264942
8 0.763 0.400 6 31306603 intron variant T/C snv 0.34 0.010 1.000 1 2014 2014
dbSNP: rs2395029
rs2395029
6 0.790 0.320 6 31464003 non coding transcript exon variant T/G snv 2.7E-02 2.4E-02 0.010 1.000 1 2020 2020
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: rs610604
rs610604
4 0.827 0.240 6 137878280 intron variant G/T snv 0.58 0.710 1.000 1 2015 2015
dbSNP: rs27524
rs27524
3 0.851 0.160 5 96766240 intron variant A/G snv 0.61 0.020 1.000 2 2013 2018
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: 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: rs2248374
rs2248374
4 0.851 0.120 5 96900192 splice region variant A/G snv 0.55 0.54 0.010 1.000 1 2018 2018