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: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.100 0.850 20 2003 2018
dbSNP: rs2066845
rs2066845
46 0.611 0.600 16 50722629 missense variant G/C;T snv 1.1E-02; 2.2E-04 0.800 0.846 13 2002 2018
dbSNP: rs4986790
rs4986790
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.800 0.923 13 2004 2017
dbSNP: rs1801274
rs1801274
46 0.597 0.800 1 161509955 missense variant A/C;G snv 4.0E-06; 0.48 0.850 1.000 9 2009 2018
dbSNP: rs2032582
rs2032582
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.080 0.875 8 2005 2018
dbSNP: rs10758669
rs10758669
10 0.763 0.280 9 4981602 upstream gene variant C/A;T snv 0.830 1.000 6 2010 2016
dbSNP: rs1545620
rs1545620
6 0.827 0.080 19 17192965 missense variant T/A;G snv 1.3E-05; 0.52 0.060 0.833 6 2009 2016
dbSNP: rs1248696
rs1248696
8 0.807 0.080 10 77856847 missense variant T/A;C snv 0.93 0.040 0.750 4 2006 2016
dbSNP: rs1384936174
rs1384936174
6 0.827 0.040 16 50710812 missense variant G/A;T snv 4.0E-06; 4.0E-06 0.040 0.750 4 2008 2019
dbSNP: rs1728785
rs1728785
2 0.925 0.120 16 68557327 intron variant A/C;T snv 0.77; 7.8E-06 0.810 1.000 4 2009 2017
dbSNP: rs2066842
rs2066842
15 0.763 0.200 16 50710713 missense variant C/A;T snv 4.0E-06; 0.19 0.040 0.750 4 2002 2014
dbSNP: rs1042522
rs1042522
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.030 1.000 3 2007 2017
dbSNP: rs10754558
rs10754558
20 0.695 0.480 1 247448734 3 prime UTR variant G/C;T snv 0.030 1.000 3 2014 2018
dbSNP: rs11150589
rs11150589
2 1.000 0.040 16 30471173 upstream gene variant T/A;C;G snv 0.800 1.000 3 2012 2017
dbSNP: rs11676348
rs11676348
8 0.790 0.160 2 218145423 regulatory region variant C/G;T snv 0.810 1.000 3 2011 2016
dbSNP: rs12942547
rs12942547
7 0.807 0.200 17 42375526 intron variant A/G;T snv 0.700 1.000 3 2015 2017
dbSNP: rs1799977
rs1799977
28 0.662 0.440 3 37012077 missense variant A/C;G;T snv 0.23 0.030 0.667 3 2004 2009
dbSNP: rs2201841
rs2201841
14 0.716 0.440 1 67228519 intron variant A/G;T snv 0.820 1.000 3 2010 2017
dbSNP: rs4246905
rs4246905
16 0.716 0.400 9 114790969 missense variant T/A;C snv 0.76 0.800 1.000 3 2011 2015
dbSNP: rs4380874
rs4380874
2 1.000 0.040 7 107839870 intergenic variant T/A;C;G snv 0.800 1.000 3 2012 2017
dbSNP: rs4845604
rs4845604
10 0.776 0.200 1 151829204 intron variant G/A;C;T snv 0.700 1.000 3 2015 2017
dbSNP: rs56167332
rs56167332
7 0.807 0.160 5 159400761 intron variant C/A;T snv 0.700 1.000 3 2015 2017
dbSNP: rs798502
rs798502
4 1.000 0.040 7 2750246 intron variant A/C;G snv 0.800 1.000 3 2011 2017
dbSNP: rs9268877
rs9268877
5 0.827 0.200 6 32463370 intron variant A/G;T snv 0.810 1.000 3 2008 2018
dbSNP: rs10800309
rs10800309
3 0.925 0.120 1 161502368 upstream gene variant A/G;T snv 0.800 1.000 2 2010 2015