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: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.100 0.850 20 2006 2019
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.100 0.824 17 2006 2019
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.080 0.750 8 2010 2019
dbSNP: rs1360780
rs1360780
31 0.708 0.320 6 35639794 intron variant T/A;C snv 0.060 1.000 6 2013 2019
dbSNP: rs9470080
rs9470080
13 0.827 0.080 6 35678658 intron variant T/A;C snv 0.060 0.833 6 2008 2019
dbSNP: rs2267735
rs2267735
2 0.925 0.120 7 31095890 intron variant C/G snv 0.47 0.050 0.800 5 2013 2017
dbSNP: rs9296158
rs9296158
16 0.763 0.080 6 35599305 intron variant A/G snv 0.65 0.050 0.800 5 2008 2019
dbSNP: rs11178997
rs11178997
5 0.827 0.040 12 71938373 upstream gene variant T/A snv 0.12 0.030 0.667 3 2012 2019
dbSNP: rs1800497
rs1800497
56 0.620 0.400 11 113400106 missense variant G/A snv 0.26 0.26 0.030 1.000 3 2016 2019
dbSNP: rs25531
rs25531
72 0.581 0.520 17 30237328 upstream gene variant T/C snv 0.18 0.030 0.667 3 2011 2012
dbSNP: rs53576
rs53576
42 0.641 0.320 3 8762685 intron variant A/G;T snv 0.030 1.000 3 2017 2020
dbSNP: rs8042149
rs8042149
3 0.882 0.160 15 60832754 intron variant T/G snv 0.44 0.720 1.000 3 2013 2019
dbSNP: rs2400707
rs2400707
3 1.000 0.040 5 148825489 5 prime UTR variant A/G;T snv 0.020 1.000 2 2014 2017
dbSNP: rs363276
rs363276
1 1.000 0.040 10 117274298 intron variant T/C;G snv 0.020 1.000 2 2014 2018
dbSNP: rs6295
rs6295
40 0.645 0.200 5 63962738 intron variant C/G snv 0.49 0.020 1.000 2 2016 2019
dbSNP: rs7208505
rs7208505
2 1.000 0.040 17 59110368 3 prime UTR variant G/A;C;T snv 0.020 0.500 2 2016 2016
dbSNP: rs10055255
rs10055255
2 1.000 0.040 5 76968168 intron variant A/T snv 0.50 0.010 1.000 1 2014 2014
dbSNP: rs10144436
rs10144436
1 1.000 0.040 14 95090065 3 prime UTR variant C/A snv 2.9E-02 0.010 1.000 1 2015 2015
dbSNP: rs10170218
rs10170218
1 1.000 0.040 2 187949717 intron variant A/C snv 0.25 0.700 1.000 1 2013 2013
dbSNP: rs1033962
rs1033962
1 1.000 0.040 10 24927877 intron variant C/T snv 0.33 0.700 1.000 1 2015 2015
dbSNP: rs1042357
rs1042357
2 0.925 0.040 17 7001742 synonymous variant T/C;G snv 0.59 0.010 1.000 1 2015 2015
dbSNP: rs1049353
rs1049353
42 0.630 0.600 6 88143916 synonymous variant C/T snv 0.21 0.20 0.010 1.000 1 2019 2019
dbSNP: rs10744891
rs10744891
1 1.000 0.040 12 117284536 intron variant G/T snv 0.41 0.010 1.000 1 2017 2017
dbSNP: rs10852889
rs10852889
1 1.000 0.040 17 6997526 intron variant C/A;G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs110402
rs110402
12 0.790 0.120 17 45802681 intron variant G/A;C snv 0.010 1.000 1 2017 2017