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: rs34662244
rs34662244
2 0.925 0.120 6 28106103 intron variant G/A snv 5.0E-02 0.700 1.000 1 2017 2017
dbSNP: rs13054095
rs13054095
1 1.000 0.080 22 29010231 intron variant A/T snv 1.6E-02 0.700 1.000 1 2017 2017
dbSNP: rs62235753
rs62235753
1 1.000 0.080 22 28876649 intergenic variant C/T snv 1.3E-02 0.700 1.000 1 2017 2017
dbSNP: rs1190999960
rs1190999960
9 0.807 0.240 11 65571690 missense variant G/A snv 0.010 1.000 1 2005 2005
dbSNP: rs8113308
rs8113308
2 0.925 0.080 19 51942133 intron variant T/C snv 0.24 0.710 1.000 1 2015 2015
dbSNP: rs3810151
rs3810151
2 0.925 0.080 19 42224684 missense variant T/C snv 0.11 7.7E-02 0.010 1.000 1 2018 2018
dbSNP: rs375066
rs375066
1 1.000 0.080 19 43919418 intron variant T/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs9940645
rs9940645
2 0.925 0.080 16 49797677 intron variant A/G snv 0.54 0.010 1.000 1 2017 2017
dbSNP: rs10235235
rs10235235
4 0.925 0.080 7 99478208 intron variant T/C snv 0.13 0.010 1.000 1 2014 2014
dbSNP: rs143072280
rs143072280
1 1.000 0.080 10 38105003 intron variant -/CTTT delins 0.40 0.700 1.000 1 2017 2017
dbSNP: rs10995190
rs10995190
4 0.882 0.080 10 62518923 intron variant G/A snv 0.16 0.770 1.000 11 2010 2017
dbSNP: rs10822013
rs10822013
4 0.851 0.080 10 62492218 intron variant C/T snv 0.42 0.720 1.000 2 2011 2016
dbSNP: rs10995201
rs10995201
1 1.000 0.080 10 62540131 intron variant A/G snv 0.16 0.700 1.000 1 2017 2017
dbSNP: rs16917302
rs16917302
5 0.851 0.080 10 62501439 intron variant A/C snv 0.18 0.010 1.000 1 2012 2012
dbSNP: rs2278415
rs2278415
2 0.925 0.080 19 51964950 missense variant T/A snv 0.16 0.14 0.010 1.000 1 2018 2018
dbSNP: rs2278420
rs2278420
2 0.925 0.080 19 51968619 missense variant A/G snv 0.20 0.24 0.010 1.000 1 2018 2018
dbSNP: rs4986771
rs4986771
2 0.925 0.080 19 51965039 missense variant A/G snv 3.1E-02 2.7E-02 0.010 1.000 1 2006 2006
dbSNP: rs8109631
rs8109631
3 0.882 0.080 19 53576890 synonymous variant A/G snv 0.70 0.76 0.010 1.000 1 2017 2017
dbSNP: rs1056948
rs1056948
2 0.925 0.080 20 53567166 3 prime UTR variant C/A;T snv 8.8E-02 0.010 1.000 1 2011 2011
dbSNP: rs34196306
rs34196306
1 1.000 0.080 6 27457865 intron variant G/C snv 4.7E-02 0.700 1.000 1 2017 2017
dbSNP: rs704010
rs704010
4 0.851 0.080 10 79081391 intron variant T/C snv 0.71 0.720 1.000 6 2010 2017
dbSNP: rs1250009
rs1250009
2 0.925 0.080 10 79085654 intron variant G/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs1268974
rs1268974
1 1.000 0.080 10 79092621 intron variant A/G snv 0.65 0.700 1.000 1 2017 2017
dbSNP: rs13214023
rs13214023
1 1.000 0.080 6 28364364 intron variant G/A snv 5.2E-02 0.700 1.000 1 2017 2017
dbSNP: rs200595749
rs200595749
2 0.925 0.080 14 67766404 missense variant C/T snv 8.8E-05 9.1E-05 0.020 1.000 2 2011 2011