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: rs12150220
rs12150220
14 0.724 0.360 17 5582047 missense variant A/T snv 0.37 0.33 0.810 1.000 1 2017 2017
dbSNP: rs2476601
rs2476601
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.060 0.833 6 2005 2018
dbSNP: rs1135216
rs1135216
6 0.807 0.200 6 32847198 missense variant T/C snv 0.17 0.18 0.020 0.500 2 2014 2017
dbSNP: rs11614913
rs11614913
111 0.512 0.760 12 53991815 mature miRNA variant C/T snv 0.39 0.34 0.020 1.000 2 2013 2015
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 1.000 2 2012 2020
dbSNP: rs3213758
rs3213758
3 0.925 0.040 16 53605526 missense variant C/T snv 7.3E-02 4.7E-02 0.020 1.000 2 2013 2015
dbSNP: rs3761548
rs3761548
42 0.620 0.680 X 49261784 intron variant G/A;T snv 0.020 1.000 2 2013 2013
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 1.000 2 2012 2020
dbSNP: rs638893
rs638893
4 0.882 0.080 11 118827828 intergenic variant G/A snv 0.79 0.020 1.000 2 2013 2017
dbSNP: rs9468925
rs9468925
5 0.851 0.040 6 31291060 intron variant G/A snv 0.44 0.020 1.000 2 2011 2012
dbSNP: rs1001179
rs1001179
CAT
33 0.641 0.680 11 34438684 upstream gene variant C/T snv 0.16 0.010 1.000 1 2017 2017
dbSNP: rs10249788
rs10249788
6 0.827 0.160 7 17298523 intron variant C/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs1041981
rs1041981
25 0.667 0.520 6 31573007 missense variant C/A snv 0.35 0.38 0.010 1.000 1 2013 2013
dbSNP: rs10431924
rs10431924
3 0.882 0.120 16 68805399 intron variant T/C snv 0.45 0.010 1.000 1 2015 2015
dbSNP: rs1043210477
rs1043210477
19 0.701 0.520 3 49358250 missense variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs10503019
rs10503019
2 0.925 0.040 18 57787145 intron variant G/A snv 0.17 0.010 1.000 1 2015 2015
dbSNP: rs10876864
rs10876864
5 0.882 0.120 12 56007301 upstream gene variant G/A snv 0.50 0.010 1.000 1 2013 2013
dbSNP: rs1130409
rs1130409
72 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 0.010 1.000 1 2013 2013
dbSNP: rs1136410
rs1136410
70 0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15 0.010 1.000 1 2013 2013
dbSNP: rs1138272
rs1138272
42 0.611 0.600 11 67586108 missense variant C/T snv 5.9E-02 5.5E-02 0.010 1.000 1 2013 2013
dbSNP: rs1141718
rs1141718
15 0.724 0.280 6 159688224 missense variant A/G snv 0.010 1.000 1 2013 2013
dbSNP: rs11575993
rs11575993
2 0.925 0.040 6 159688219 missense variant G/A snv 0.010 1.000 1 2013 2013
dbSNP: rs11940117
rs11940117
2 0.925 0.040 4 10725083 intergenic variant C/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs11966200
rs11966200
4 0.851 0.040 6 31869289 intron variant C/T snv 2.9E-02 4.5E-02 0.010 < 0.001 1 2013 2013
dbSNP: rs1202989817
rs1202989817
18 0.716 0.360 21 31659813 missense variant T/C;G snv 8.0E-06 7.0E-06 0.010 1.000 1 2013 2013