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: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.100 0.872 78 2003 2019
dbSNP: rs1344706
rs1344706
21 0.701 0.160 2 184913701 intron variant A/C;T snv 0.900 0.873 63 2008 2019
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.100 0.684 19 2005 2020
dbSNP: rs6994992
rs6994992
13 0.790 0.120 8 31638065 upstream gene variant C/A;T snv 0.100 0.900 10 2008 2019
dbSNP: rs9960767
rs9960767
3 0.925 0.040 18 55487771 intron variant A/C;G snv 0.880 1.000 10 2009 2018
dbSNP: rs953038635
rs953038635
51 0.590 0.800 6 159692720 missense variant G/A;T snv 8.0E-06 0.090 0.667 9 2000 2015
dbSNP: rs13107325
rs13107325
34 0.776 0.520 4 102267552 missense variant C/A;T snv 4.0E-06; 4.5E-02 0.750 1.000 7 2015 2019
dbSNP: rs4702
rs4702
3 1.000 0.040 15 90883330 3 prime UTR variant G/A;C snv 0.720 1.000 7 2014 2019
dbSNP: rs7405404
rs7405404
3 0.925 0.040 16 13656002 intergenic variant T/A;C snv 0.700 1.000 7 2014 2019
dbSNP: rs778293
rs778293
7 0.807 0.120 13 105516850 intergenic variant C/A;T snv 0.070 0.714 7 2006 2018
dbSNP: rs17693963
rs17693963
5 0.882 0.040 6 27742386 upstream gene variant A/C;G snv 0.800 1.000 6 2009 2014
dbSNP: rs35753505
rs35753505
6 0.827 0.080 8 31616625 intergenic variant T/A;C snv 0.060 1.000 6 2009 2018
dbSNP: rs77502336
rs77502336
2 1.000 0.040 11 123523928 intron variant G/C;T snv 0.700 1.000 6 2014 2019
dbSNP: rs9636107
rs9636107
3 1.000 0.040 18 55532886 intron variant A/G;T snv 0.700 1.000 6 2014 2019
dbSNP: rs1042522
rs1042522
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.050 0.600 5 2001 2019
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.050 0.800 5 2006 2010
dbSNP: rs12421382
rs12421382
2 1.000 0.040 11 109507345 intron variant C/G;T snv 0.700 1.000 5 2014 2019
dbSNP: rs12991836
rs12991836
2 1.000 0.040 2 144383974 intron variant A/C;T snv 0.810 1.000 5 2013 2019
dbSNP: rs1799732
rs1799732
11 0.790 0.160 11 113475529 intron variant -/G delins 0.050 1.000 5 2007 2019
dbSNP: rs3849046
rs3849046
2 1.000 0.040 5 138515503 intron variant C/A;G;T snv 0.700 1.000 5 2014 2019
dbSNP: rs4240748
rs4240748
1 1.000 0.040 12 91853010 regulatory region variant C/A;G snv 0.700 1.000 5 2014 2019
dbSNP: rs6002655
rs6002655
1 1.000 0.040 22 42207808 intron variant C/A;T snv 0.700 1.000 5 2014 2019
dbSNP: rs6434928
rs6434928
2 1.000 0.040 2 197439853 upstream gene variant G/A;C snv 0.700 1.000 5 2014 2019
dbSNP: rs8082590
rs8082590
1 1.000 0.040 17 18055088 intron variant G/A;T snv 0.700 1.000 5 2014 2019
dbSNP: rs10520163
rs10520163
2 1.000 0.040 4 169705401 intron variant T/A;C snv 0.700 1.000 4 2014 2018