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: rs11209026
rs11209026
46 0.597 0.680 1 67240275 missense variant G/A snv 4.2E-02 4.6E-02 0.900 0.857 14 2008 2018
dbSNP: rs20541
rs20541
52 0.585 0.720 5 132660272 missense variant A/G snv 0.72 0.77 0.860 0.900 10 2008 2015
dbSNP: rs610604
rs610604
5 0.827 0.240 6 137878280 intron variant G/T snv 0.58 0.860 1.000 10 2009 2015
dbSNP: rs33980500
rs33980500
14 0.742 0.200 6 111592059 missense variant C/T snv 8.6E-02 9.7E-02 0.850 1.000 7 2010 2019
dbSNP: rs11652075
rs11652075
3 0.882 0.040 17 80205094 missense variant C/T snv 0.41 0.40 0.840 1.000 5 2012 2016
dbSNP: rs12191877
rs12191877
7 0.851 0.120 6 31285148 intron variant C/T snv 0.12 0.830 1.000 5 2009 2015
dbSNP: rs2201841
rs2201841
14 0.716 0.440 1 67228519 intron variant A/G;T snv 0.830 1.000 5 2009 2016
dbSNP: rs17728338
rs17728338
4 0.851 0.160 5 151098757 downstream gene variant G/A snv 7.1E-02 0.820 1.000 7 2009 2015
dbSNP: rs4795067
rs4795067
3 0.882 0.280 17 27779649 intron variant A/G snv 0.31 0.820 1.000 5 2010 2015
dbSNP: rs4112788
rs4112788
4 0.851 0.120 1 152578800 downstream gene variant A/G;T snv 0.820 1.000 4 2009 2011
dbSNP: rs2395029
rs2395029
12 0.790 0.320 6 31464003 non coding transcript exon variant T/G snv 2.7E-02 2.4E-02 0.820 1.000 2 2008 2014
dbSNP: rs2066808
rs2066808
8 0.807 0.280 12 56344189 intron variant A/G snv 0.21 0.810 1.000 5 2009 2015
dbSNP: rs10484554
rs10484554
11 0.807 0.200 6 31306778 intron variant C/T snv 0.12 0.810 1.000 4 2008 2018
dbSNP: rs12720356
rs12720356
12 0.752 0.360 19 10359299 missense variant A/C;G snv 6.1E-02; 4.0E-06 0.810 1.000 4 2010 2018
dbSNP: rs495337
rs495337
2 0.925 0.120 20 49905793 synonymous variant G/A snv 0.44 0.35 0.810 1.000 4 2008 2015
dbSNP: rs8016947
rs8016947
2 0.925 0.080 14 35363460 intron variant T/G snv 0.60 0.810 1.000 4 2010 2015
dbSNP: rs28998802
rs28998802
6 0.807 0.120 17 27797882 intron variant G/A snv 0.11 0.810 1.000 3 2012 2016
dbSNP: rs34536443
rs34536443
25 0.667 0.400 19 10352442 missense variant G/C snv 2.7E-02 2.8E-02 0.810 1.000 2 2012 2018
dbSNP: rs4649203
rs4649203
4 0.851 0.160 1 24193430 intergenic variant G/A snv 0.61 0.810 1.000 2 2010 2013
dbSNP: rs1250544
rs1250544
3 0.882 0.080 10 79273128 intron variant G/A snv 0.32 0.810 1.000 1 2012 2012
dbSNP: rs11795343
rs11795343
1 1.000 0.040 9 32523739 intron variant T/C snv 0.41 0.800 1.000 3 2012 2015
dbSNP: rs12580100
rs12580100
1 1.000 0.040 12 56045425 upstream gene variant A/G snv 0.14 0.800 1.000 3 2010 2015
dbSNP: rs17716942
rs17716942
2 0.925 0.040 2 162404181 intron variant T/C snv 9.6E-02 0.800 1.000 3 2010 2015
dbSNP: rs240993
rs240993
1 1.000 0.040 6 111352511 intron variant T/A;C snv 0.800 1.000 3 2010 2015
dbSNP: rs582757
rs582757
8 0.776 0.320 6 137876687 intron variant C/T snv 0.70 0.800 1.000 3 2012 2016