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: rs2066847
rs2066847
18 0.716 0.400 16 50729868 frameshift variant C/-;CC delins 1.5E-02 0.890 0.923 13 2005 2019
dbSNP: rs2542151
rs2542151
11 0.763 0.480 18 12779948 upstream gene variant G/T snv 0.83 0.880 1.000 12 2007 2016
dbSNP: rs7517847
rs7517847
19 0.689 0.600 1 67215986 intron variant T/G snv 0.37 0.880 1.000 11 2007 2019
dbSNP: rs1893217
rs1893217
14 0.742 0.440 18 12809341 intron variant A/G snv 0.12 0.850 1.000 9 2008 2016
dbSNP: rs2076756
rs2076756
5 0.882 0.040 16 50722970 intron variant A/G snv 0.17 0.830 1.000 9 2007 2019
dbSNP: rs1004819
rs1004819
9 0.776 0.360 1 67204530 intron variant G/A snv 0.30 0.860 1.000 8 2006 2019
dbSNP: rs10758669
rs10758669
10 0.763 0.280 9 4981602 upstream gene variant C/A;T snv 0.850 1.000 8 2008 2016
dbSNP: rs3024505
rs3024505
10 0.790 0.320 1 206766559 upstream gene variant G/A snv 0.11 0.850 0.875 8 2008 2017
dbSNP: rs4958847
rs4958847
8 0.807 0.120 5 150860025 intron variant G/A snv 0.25 0.080 0.875 8 2008 2020
dbSNP: rs5743293
rs5743293
7 0.807 0.200 16 50729868 frameshift variant C/-;CC delins 0.830 1.000 8 2007 2017
dbSNP: rs6478108
rs6478108
10 0.763 0.200 9 114796423 intron variant C/T snv 0.73 0.760 1.000 8 2005 2018
dbSNP: rs744166
rs744166
22 0.689 0.560 17 42362183 intron variant A/G snv 0.48 0.870 1.000 8 2008 2016
dbSNP: rs10889677
rs10889677
40 0.627 0.720 1 67259437 3 prime UTR variant C/A snv 0.27 0.850 1.000 7 2006 2020
dbSNP: rs13361189
rs13361189
13 0.752 0.240 5 150843825 upstream gene variant T/C snv 0.21 0.850 1.000 7 2007 2015
dbSNP: rs2201841
rs2201841
14 0.716 0.440 1 67228519 intron variant A/G;T snv 0.850 1.000 7 2006 2013
dbSNP: rs6478109
rs6478109
12 0.752 0.320 9 114806486 upstream gene variant A/G snv 0.74 0.830 1.000 7 2005 2016
dbSNP: rs212388
rs212388
8 0.827 0.240 6 159069404 intron variant C/G;T snv 0.810 1.000 6 2010 2017
dbSNP: rs6651252
rs6651252
8 0.790 0.200 8 128554935 intron variant T/C snv 0.19 0.810 1.000 6 2010 2019
dbSNP: rs7848647
rs7848647
13 0.732 0.320 9 114806766 upstream gene variant T/C snv 0.74 0.840 1.000 6 2005 2018
dbSNP: rs901312933
rs901312933
4 0.882 0.120 2 233282746 missense variant G/A;T snv 0.060 1.000 6 2007 2016
dbSNP: rs1000113
rs1000113
2 0.925 0.040 5 150860514 intron variant C/T snv 0.13 0.840 1.000 5 2007 2015
dbSNP: rs10883365
rs10883365
3 0.882 0.080 10 99528007 non coding transcript exon variant G/A snv 0.52 0.830 1.000 5 2007 2014
dbSNP: rs4409764
rs4409764
3 0.925 0.040 10 99524480 upstream gene variant T/A;G snv 0.820 1.000 5 2010 2019
dbSNP: rs7574865
rs7574865
59 0.574 0.720 2 191099907 intron variant T/G snv 0.79 0.050 0.800 5 2010 2015
dbSNP: rs7869487
rs7869487
3 0.882 0.040 9 114818634 intergenic variant C/G;T snv 0.830 1.000 5 2005 2015