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: rs61211515
rs61211515
2 1.000 0.120 6 30133199 upstream gene variant TT/-;T;TTT;TTTT delins 0.14 0.710 < 0.001 1 2018 2018
dbSNP: rs2292239
rs2292239
13 0.742 0.480 12 56088396 intron variant T/G snv 0.65 0.830 1.000 7 2007 2019
dbSNP: rs7574865
rs7574865
59 0.574 0.720 2 191099907 intron variant T/G snv 0.79 0.070 0.571 7 2008 2015
dbSNP: rs1701704
rs1701704
5 0.851 0.200 12 56018703 intron variant T/G snv 0.25 0.830 1.000 4 2008 2013
dbSNP: rs725613
rs725613
4 0.851 0.240 16 11075826 intron variant T/G snv 0.42 0.740 1.000 4 2007 2013
dbSNP: rs1946518
rs1946518
46 0.602 0.760 11 112164735 intron variant T/G snv 0.60 0.020 1.000 2 2013 2015
dbSNP: rs1012411
rs1012411
1 1.000 0.120 6 30364778 upstream gene variant T/G snv 0.32 0.700 1.000 1 2007 2007
dbSNP: rs10484566
rs10484566
2 0.925 0.200 6 32867481 regulatory region variant T/G snv 6.8E-02 0.700 1.000 1 2007 2007
dbSNP: rs11014284
rs11014284
2 0.925 0.240 10 18451155 intron variant T/G snv 0.20 0.010 1.000 1 2019 2019
dbSNP: rs11052552
rs11052552
1 1.000 0.120 12 9703362 upstream gene variant T/G snv 0.42 0.800 1.000 1 2007 2007
dbSNP: rs11568563
rs11568563
2 0.925 0.240 12 21304500 missense variant T/G snv 4.5E-02 4.4E-02 0.010 1.000 1 2012 2012
dbSNP: rs1217419
rs1217419
1 1.000 0.120 1 113859282 intron variant T/G snv 0.56 0.010 1.000 1 2014 2014
dbSNP: rs1223438908
rs1223438908
2 1.000 0.120 3 105681480 missense variant T/G snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs13415583
rs13415583
1 1.000 0.120 2 100147625 intron variant T/G snv 0.37 0.700 1.000 1 2015 2015
dbSNP: rs2395174
rs2395174
5 0.827 0.320 6 32437101 upstream gene variant T/G snv 0.24 0.700 1.000 1 2007 2007
dbSNP: rs3094122
rs3094122
1 1.000 0.120 6 30760583 intron variant T/G snv 0.21 0.700 1.000 1 2007 2007
dbSNP: rs3104402
rs3104402
1 1.000 0.120 6 32713899 upstream gene variant T/G snv 0.96 0.700 1.000 1 2007 2007
dbSNP: rs3117582
rs3117582
14 0.716 0.440 6 31652743 intron variant T/G snv 7.1E-02 0.700 1.000 1 2007 2007
dbSNP: rs3130817
rs3130817
2 0.925 0.160 6 29211460 upstream gene variant T/G snv 0.22 0.700 1.000 1 2007 2007
dbSNP: rs3132453
rs3132453
2 0.925 0.200 6 31636267 missense variant T/G snv 0.96 0.95 0.700 1.000 1 2007 2007
dbSNP: rs3134792
rs3134792
4 0.851 0.280 6 31344549 intron variant T/G snv 8.8E-02 0.700 1.000 1 2007 2007
dbSNP: rs3136534
rs3136534
6 0.807 0.240 4 122448621 downstream gene variant T/G snv 0.29 0.010 1.000 1 2013 2013
dbSNP: rs3212227
rs3212227
65 0.566 0.840 5 159315942 3 prime UTR variant T/G snv 0.26 0.010 1.000 1 2016 2016
dbSNP: rs3842753
rs3842753
1 1.000 0.120 11 2159830 missense variant T/G snv 0.73 0.60 0.010 1.000 1 2015 2015
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2006 2006