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: 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: rs11966728
rs11966728
1 1.000 0.080 6 131955465 intron variant T/C snv 0.26 0.010 1.000 1 2009 2009
dbSNP: rs1293762
rs1293762
1 1.000 0.080 12 112993031 intron variant T/G snv 0.67 0.010 1.000 1 2014 2014
dbSNP: rs12952093
rs12952093
1 1.000 0.080 17 78367559 intron variant A/C;T snv 0.010 1.000 1 2013 2013
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: 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: 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: 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: rs965469
rs965469
1 1.000 0.080 20 3400902 intron variant T/C snv 0.20 0.800 1.000 1 2012 2012
dbSNP: rs4803217
rs4803217
4 0.882 0.120 19 39243580 3 prime UTR variant C/A snv 0.39 0.020 1.000 2 2015 2017
dbSNP: rs11854484
rs11854484
2 0.925 0.120 15 45253280 missense variant C/T snv 0.47 0.45 0.010 1.000 1 2013 2013
dbSNP: rs12989760
rs12989760
2 0.925 0.120 2 250470 intron variant T/C snv 0.010 1.000 1 2016 2016
dbSNP: rs1470452230
rs1470452230
2 0.925 0.120 9 135561895 missense variant A/C snv 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs16851720
rs16851720
5 0.827 0.120 3 141744456 intron variant A/C snv 0.21 0.010 1.000 1 2017 2017
dbSNP: rs2267716
rs2267716
4 0.851 0.120 7 30677027 intron variant T/A;C snv 0.010 1.000 1 2010 2010
dbSNP: rs6051702
rs6051702
3 0.882 0.120 20 3271278 intron variant A/C snv 0.19 0.010 1.000 1 2020 2020
dbSNP: rs758564400
rs758564400
REN
5 0.925 0.120 1 204156683 missense variant A/G snv 4.0E-06 0.010 1.000 1 2009 2009
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: rs9695310
rs9695310
4 0.851 0.120 9 32464137 intron variant G/C snv 0.52 0.010 1.000 1 2019 2019
dbSNP: rs1012068
rs1012068
5 0.827 0.160 22 31869917 intron variant T/G snv 0.37 0.800 1.000 1 2011 2011