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: rs12979860
rs12979860
84 0.547 0.520 19 39248147 intron variant C/T snv 0.39 0.900 1.000 41 2009 2020
dbSNP: rs8099917
rs8099917
60 0.581 0.600 19 39252525 upstream gene variant T/G snv 0.16 0.900 1.000 18 2009 2019
dbSNP: rs12980275
rs12980275
23 0.701 0.360 19 39241143 upstream gene variant A/G snv 0.36 0.870 1.000 9 2009 2017
dbSNP: rs1127354
rs1127354
26 0.667 0.400 20 3213196 missense variant C/A;G snv 7.5E-02 0.850 0.833 6 2010 2020
dbSNP: rs4273729
rs4273729
5 0.851 0.240 6 32710820 upstream gene variant C/A;G;T snv 0.810 1.000 2 2013 2017
dbSNP: rs1012068
rs1012068
5 0.827 0.160 22 31869917 intron variant T/G snv 0.37 0.800 1.000 1 2011 2011
dbSNP: rs10776934
rs10776934
1 1.000 0.080 9 135137855 regulatory region variant T/G snv 0.74 0.800 1.000 1 2012 2012
dbSNP: rs10789491
rs10789491
1 1.000 0.080 1 46713638 intron variant A/G snv 0.80 0.800 1.000 1 2012 2012
dbSNP: rs11697186
rs11697186
1 1.000 0.080 20 3204477 intron variant A/C;T snv 7.0E-02 0.800 1.000 1 2011 2011
dbSNP: rs6139030
rs6139030
1 1.000 0.080 20 3207087 upstream gene variant T/C snv 8.6E-02 0.800 1.000 1 2011 2011
dbSNP: rs7270101
rs7270101
10 0.776 0.200 20 3213247 intron variant A/C snv 8.7E-02 9.7E-02 0.800 1.000 1 2010 2010
dbSNP: rs9275572
rs9275572
15 0.724 0.360 6 32711222 upstream gene variant A/G;T snv 0.800 1.000 1 2013 2013
dbSNP: rs965469
rs965469
1 1.000 0.080 20 3400902 intron variant T/C snv 0.20 0.800 1.000 1 2012 2012
dbSNP: rs12972991
rs12972991
1 1.000 0.080 19 39241107 upstream gene variant A/C snv 0.19 0.700 1.000 1 2009 2009
dbSNP: rs12980602
rs12980602
1 1.000 0.080 19 39262180 upstream gene variant T/C snv 0.25 0.700 1.000 1 2009 2009
dbSNP: rs1863918
rs1863918
4 0.882 0.160 5 179112381 3 prime UTR variant G/T snv 0.25 0.700 1.000 1 2016 2016
dbSNP: rs2071286
rs2071286
12 0.752 0.280 6 32212119 intron variant C/T snv 0.17 0.700 1.000 1 2014 2014
dbSNP: rs2779180
rs2779180
1 1.000 0.080 19 4841139 intron variant A/G snv 0.37 0.700 1.000 1 2016 2016
dbSNP: rs28416813
rs28416813
1 1.000 0.080 19 39245004 5 prime UTR variant C/G snv 0.31 0.39 0.700 1.000 1 2009 2009
dbSNP: rs4803223
rs4803223
1 1.000 0.080 19 39255579 upstream gene variant A/G snv 0.13 0.700 1.000 1 2009 2009
dbSNP: rs5998152
rs5998152
5 0.827 0.160 22 31867176 intron variant T/C snv 0.37 0.700 1.000 1 2011 2011
dbSNP: rs8103142
rs8103142
4 0.882 0.120 19 39244466 missense variant T/C snv 0.29 0.40 0.700 1.000 1 2009 2009
dbSNP: rs8109886
rs8109886
1 1.000 0.080 19 39252122 upstream gene variant C/A snv 0.53 0.700 1.000 1 2009 2009
dbSNP: rs9461776
rs9461776
11 0.763 0.240 6 32607958 intergenic variant A/G snv 8.8E-02 0.700 1.000 1 2014 2014
dbSNP: rs738409
rs738409
88 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.100 0.938 16 2011 2019