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: rs35753505
rs35753505
6 0.827 0.080 8 31616625 intergenic variant T/A;C snv 0.020 1.000 2 2010 2014
dbSNP: rs12807809
rs12807809
4 0.882 0.160 11 124736389 upstream gene variant T/C snv 0.20 0.010 1.000 1 2017 2017
dbSNP: rs135745
rs135745
13 0.763 0.200 22 38287631 downstream gene variant G/C snv 0.48 0.010 < 0.001 1 2008 2008
dbSNP: rs1421292
rs1421292
3 0.925 0.040 13 105545886 intergenic variant T/A snv 0.39 0.010 1.000 1 2009 2009
dbSNP: rs2514218
rs2514218
4 0.925 0.040 11 113522272 regulatory region variant C/T snv 0.26 0.010 1.000 1 2015 2015
dbSNP: rs3916965
rs3916965
4 0.882 0.040 13 105451011 intergenic variant C/T snv 0.31 0.010 1.000 1 2009 2009
dbSNP: rs7759855
rs7759855
3 0.925 0.040 6 28315086 downstream gene variant A/G snv 2.8E-02 0.010 1.000 1 2014 2014
dbSNP: rs778293
rs778293
7 0.807 0.120 13 105516850 intergenic variant C/A;T snv 0.010 1.000 1 2009 2009
dbSNP: rs951436
rs951436
3 0.925 0.040 1 163063552 regulatory region variant A/C snv 0.42 0.010 1.000 1 2007 2007
dbSNP: rs2494732
rs2494732
11 0.763 0.240 14 104772855 intron variant T/C snv 0.50 0.47 0.030 0.667 3 2012 2019
dbSNP: rs1130214
rs1130214
12 0.742 0.280 14 104793397 5 prime UTR variant C/A snv 0.31 0.010 1.000 1 2020 2020
dbSNP: rs3730358
rs3730358
14 0.724 0.360 14 104780070 intron variant G/A;C snv 0.16; 4.0E-03 0.010 1.000 1 2020 2020
dbSNP: rs10994359
rs10994359
7 0.827 0.040 10 60462349 intron variant T/C snv 8.0E-02 0.010 1.000 1 2014 2014
dbSNP: rs1800497
rs1800497
56 0.620 0.400 11 113400106 missense variant G/A snv 0.26 0.26 0.010 1.000 1 2015 2015
dbSNP: rs165599
rs165599
27 0.677 0.280 22 19969258 3 prime UTR variant G/A snv 0.56 0.010 1.000 1 2014 2014
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.100 0.933 15 2006 2019
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.100 0.923 13 2006 2019
dbSNP: rs893924483
rs893924483
23 0.716 0.280 11 27658285 missense variant C/A;T snv 4.0E-06 1.4E-05 0.010 1.000 1 2017 2017
dbSNP: rs1006737
rs1006737
27 0.695 0.120 12 2236129 intron variant G/A snv 0.36 0.030 1.000 3 2011 2017
dbSNP: rs2007044
rs2007044
6 0.882 0.040 12 2235794 intron variant A/G snv 0.50 0.010 1.000 1 2017 2017
dbSNP: rs4765905
rs4765905
6 0.827 0.040 12 2240418 intron variant G/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs1049353
rs1049353
42 0.630 0.600 6 88143916 synonymous variant C/T snv 0.21 0.20 0.010 1.000 1 2015 2015
dbSNP: rs1535255
rs1535255
8 0.807 0.120 6 88151489 intron variant T/G snv 0.21 0.010 1.000 1 2015 2015
dbSNP: rs2023239
rs2023239
20 0.724 0.160 6 88150763 intron variant T/C snv 0.21 0.010 1.000 1 2015 2015
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.100 0.960 25 1997 2019