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: rs11209026
rs11209026
46 0.597 0.680 1 67240275 missense variant G/A snv 4.2E-02 4.6E-02 0.900 0.773 22 2006 2020
dbSNP: rs3197999
rs3197999
16 0.732 0.280 3 49684099 missense variant G/A snv 0.26 0.27 0.850 1.000 7 2008 2017
dbSNP: rs2076756
rs2076756
5 0.882 0.040 16 50722970 intron variant A/G snv 0.17 0.820 1.000 3 2006 2017
dbSNP: rs6871626
rs6871626
5 0.851 0.160 5 159399784 intron variant C/A;G snv 0.29 0.820 0.667 3 2012 2017
dbSNP: rs10500264
rs10500264
2 1.000 0.080 19 33259408 intergenic variant G/A snv 0.14 0.820 1.000 2 2009 2019
dbSNP: rs1893217
rs1893217
14 0.742 0.440 18 12809341 intron variant A/G snv 0.12 0.810 1.000 3 2012 2016
dbSNP: rs2382817
rs2382817
3 0.925 0.040 2 218286495 5 prime UTR variant A/C snv 0.61 0.810 1.000 3 2012 2017
dbSNP: rs3024505
rs3024505
10 0.790 0.320 1 206766559 upstream gene variant G/A snv 0.11 0.810 1.000 3 2012 2017
dbSNP: rs7554511
rs7554511
3 0.925 0.040 1 200908434 intron variant C/A snv 0.22 0.810 1.000 3 2012 2017
dbSNP: rs8005161
rs8005161
5 0.882 0.120 14 88006251 intron variant C/T snv 0.18 0.810 1.000 3 2012 2019
dbSNP: rs10758669
rs10758669
10 0.763 0.280 9 4981602 upstream gene variant C/A;T snv 0.810 1.000 2 2012 2016
dbSNP: rs1250550
rs1250550
5 0.851 0.240 10 79300560 intron variant C/A snv 0.27 0.810 1.000 2 2009 2017
dbSNP: rs7134599
rs7134599
2 1.000 0.040 12 68106295 intron variant G/A snv 0.32 0.810 1.000 2 2012 2020
dbSNP: rs917997
rs917997
20 0.701 0.480 2 102454108 downstream gene variant T/A;C snv 0.810 1.000 2 2008 2012
dbSNP: rs2412973
rs2412973
2 1.000 0.080 22 30133642 intron variant C/A snv 0.54 0.810 1.000 1 2009 2009
dbSNP: rs8049439
rs8049439
5 0.925 0.120 16 28826194 intron variant T/C;G snv 0.38 0.810 1.000 1 2009 2009
dbSNP: rs10761659
rs10761659
3 0.925 0.040 10 62685804 intron variant A/G snv 0.43 0.800 1.000 3 2012 2017
dbSNP: rs12103
rs12103
3 0.925 0.040 1 1312114 synonymous variant T/A;C;G snv 0.56 0.800 1.000 3 2012 2017
dbSNP: rs12942547
rs12942547
7 0.807 0.200 17 42375526 intron variant A/G;T snv 0.800 1.000 3 2012 2017
dbSNP: rs12946510
rs12946510
5 0.851 0.160 17 39756124 downstream gene variant C/T snv 0.37 0.800 1.000 3 2012 2017
dbSNP: rs1363907
rs1363907
2 1.000 0.040 5 96917099 intron variant G/A snv 0.38 0.800 1.000 3 2012 2017
dbSNP: rs1456896
rs1456896
5 0.882 0.200 7 50264865 upstream gene variant C/T snv 0.67 0.800 1.000 3 2012 2017
dbSNP: rs17119
rs17119
4 0.882 0.120 6 14719265 intron variant G/A snv 0.74 0.800 1.000 3 2012 2017
dbSNP: rs17293632
rs17293632
12 0.763 0.240 15 67150258 intron variant C/T snv 0.17 0.800 1.000 3 2012 2017
dbSNP: rs17694108
rs17694108
3 0.925 0.040 19 33240645 regulatory region variant G/A snv 0.22 0.800 1.000 3 2012 2017