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: rs2302685
rs2302685
5 0.827 0.240 12 12148964 missense variant C/T snv 0.85 0.84 0.010 < 0.001 1 2008 2008
dbSNP: rs545382
rs545382
1 1.000 0.080 11 68403545 synonymous variant T/C snv 0.91 0.83 0.010 1.000 1 2010 2010
dbSNP: rs1883832
rs1883832
52 0.581 0.680 20 46118343 5 prime UTR variant T/C snv 0.75 0.80 0.010 1.000 1 2008 2008
dbSNP: rs627174
rs627174
1 1.000 0.080 11 68396046 intron variant C/T snv 0.74 0.010 1.000 1 2013 2013
dbSNP: rs10085588
rs10085588
3 1.000 0.080 7 96508362 intron variant A/G snv 0.72 0.010 1.000 1 2019 2019
dbSNP: rs1800795
rs1800795
140 0.494 0.840 7 22727026 intron variant C/G snv 0.71 0.020 0.500 2 2014 2019
dbSNP: rs972936
rs972936
12 0.807 0.200 12 102431143 intron variant T/C snv 0.70 0.010 < 0.001 1 2015 2015
dbSNP: rs1784235
rs1784235
1 1.000 0.080 11 68418032 intron variant C/T snv 0.69 0.010 1.000 1 2007 2007
dbSNP: rs7227401
rs7227401
1 1.000 0.080 18 24358694 intron variant T/G snv 0.69 0.800 1.000 1 2010 2010
dbSNP: rs3018362
rs3018362
4 0.882 0.120 18 62414860 upstream gene variant A/G snv 0.67 0.020 0.500 2 2018 2019
dbSNP: rs6532023
rs6532023
3 1.000 0.080 4 87852697 regulatory region variant T/G snv 0.66 0.010 1.000 1 2013 2013
dbSNP: rs1256044
rs1256044
1 1.000 0.080 14 64267309 intron variant G/A snv 0.66 0.010 1.000 1 2018 2018
dbSNP: rs1230399
rs1230399
1 1.000 0.080 17 43768035 3 prime UTR variant C/T snv 0.66 0.020 1.000 2 2009 2018
dbSNP: rs2292910
rs2292910
3 1.000 0.080 11 45882062 3 prime UTR variant A/C snv 0.66 0.010 1.000 1 2016 2016
dbSNP: rs2062375
rs2062375
2 1.000 0.080 8 118965553 intergenic variant G/C snv 0.65 0.800 1.000 1 2010 2010
dbSNP: rs4237
rs4237
1 1.000 0.080 1 23787639 3 prime UTR variant G/A snv 0.64 0.020 0.500 2 2015 2019
dbSNP: rs7605378
rs7605378
2 0.925 0.120 2 199812203 intron variant A/C snv 0.64 0.830 1.000 3 2011 2015
dbSNP: rs3003336
rs3003336
1 1.000 0.080 1 23874958 synonymous variant C/T snv 0.62 0.64 0.020 1.000 2 2015 2019
dbSNP: rs2501431
rs2501431
1 1.000 0.080 1 23875153 synonymous variant G/A snv 0.62 0.64 0.020 1.000 2 2015 2019
dbSNP: rs2502992
rs2502992
1 1.000 0.080 1 23875429 synonymous variant T/C snv 4.0E-06; 0.62 0.64 0.010 1.000 1 2015 2015
dbSNP: rs6993813
rs6993813
2 1.000 0.080 8 119039999 intron variant T/C snv 0.60 0.010 1.000 1 2012 2012
dbSNP: rs2073618
rs2073618
19 0.716 0.480 8 118951813 missense variant G/C snv 0.52 0.60 0.030 0.667 3 2014 2018
dbSNP: rs1800544
rs1800544
12 0.790 0.160 10 111076745 upstream gene variant G/C snv 0.59 0.020 1.000 2 2015 2018
dbSNP: rs1038304
rs1038304
4 0.882 0.160 6 151612040 intron variant A/G snv 0.58 0.010 1.000 1 2011 2011
dbSNP: rs2073617
rs2073617
9 0.776 0.360 8 118952044 upstream gene variant G/A snv 0.58 0.020 1.000 2 2015 2016