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: rs3789243
rs3789243
14 0.776 0.120 7 87591570 intron variant A/G snv 0.50 0.010 1.000 1 2007 2007
dbSNP: rs8100586
rs8100586
1 1.000 0.040 19 5257800 intron variant C/A;T snv 0.010 1.000 1 2007 2007
dbSNP: rs3024505
rs3024505
10 0.790 0.320 1 206766559 upstream gene variant G/A snv 0.11 0.840 0.889 9 2008 2017
dbSNP: rs3197999
rs3197999
16 0.732 0.280 3 49684099 missense variant G/A snv 0.26 0.27 0.820 1.000 7 2008 2017
dbSNP: rs2275913
rs2275913
105 0.514 0.760 6 52186235 upstream gene variant G/A snv 0.28 0.050 1.000 5 2008 2014
dbSNP: rs1384936174
rs1384936174
6 0.827 0.040 16 50710812 missense variant G/A;T snv 4.0E-06; 4.0E-06 0.040 0.750 4 2008 2019
dbSNP: rs7517847
rs7517847
19 0.689 0.600 1 67215986 intron variant T/G snv 0.37 0.730 1.000 4 2008 2016
dbSNP: rs7574865
rs7574865
59 0.574 0.720 2 191099907 intron variant T/G snv 0.79 0.040 0.750 4 2008 2015
dbSNP: rs763780
rs763780
87 0.531 0.720 6 52236941 missense variant T/C snv 6.7E-02 6.6E-02 0.030 0.667 3 2008 2013
dbSNP: rs9268877
rs9268877
5 0.827 0.200 6 32463370 intron variant A/G;T snv 0.810 1.000 3 2008 2018
dbSNP: rs10870077
rs10870077
5 0.827 0.120 9 136369439 intron variant C/G snv 0.38 0.710 1.000 2 2008 2016
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.020 1.000 2 2008 2012
dbSNP: rs2043211
rs2043211
29 0.653 0.480 19 48234449 missense variant A/T snv 0.33 0.29 0.020 1.000 2 2008 2011
dbSNP: rs1128535
rs1128535
2 0.925 0.040 3 49828959 3 prime UTR variant C/A;T snv 0.48 0.010 1.000 1 2008 2008
dbSNP: rs1398024
rs1398024
3 0.882 0.080 10 23376509 intergenic variant G/T snv 0.31 0.010 1.000 1 2008 2008
dbSNP: rs149939201
rs149939201
1 1.000 0.040 16 50697279 synonymous variant G/A snv 1.2E-05 2.8E-05 0.010 1.000 1 2008 2008
dbSNP: rs2236851
rs2236851
1 1.000 0.040 1 24917063 intron variant C/T snv 0.12 0.010 1.000 1 2008 2008
dbSNP: rs35873774
rs35873774
3 0.925 0.040 22 28795944 intron variant A/G snv 4.6E-02 0.010 1.000 1 2008 2008
dbSNP: rs376377228
rs376377228
3 0.925 0.040 1 67182950 missense variant A/G snv 1.6E-05 2.1E-05 0.010 < 0.001 1 2008 2008
dbSNP: rs767455
rs767455
13 0.742 0.400 12 6341779 synonymous variant T/C snv 0.37 0.40 0.010 1.000 1 2008 2008
dbSNP: rs917997
rs917997
20 0.701 0.480 2 102454108 downstream gene variant T/A;C snv 0.010 1.000 1 2008 2008
dbSNP: rs1801274
rs1801274
46 0.597 0.800 1 161509955 missense variant A/C;G snv 4.0E-06; 0.48 0.850 1.000 9 2009 2018
dbSNP: rs6426833
rs6426833
6 0.827 0.120 1 19845367 TF binding site variant G/A snv 0.52 0.810 1.000 9 2009 2017
dbSNP: rs17085007
rs17085007
7 0.827 0.120 13 26957130 regulatory region variant T/C snv 0.16 0.820 1.000 8 2009 2017
dbSNP: rs1545620
rs1545620
6 0.827 0.080 19 17192965 missense variant T/A;G snv 1.3E-05; 0.52 0.060 0.833 6 2009 2016