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: rs2522833
rs2522833
7 0.827 0.080 7 82824392 missense variant A/C snv 0.45 0.34 0.030 0.667 3 2010 2014
dbSNP: rs1187323
rs1187323
5 0.882 0.080 9 84668501 upstream gene variant C/A;G;T snv 0.020 1.000 2 2009 2015
dbSNP: rs7766029
rs7766029
7 0.851 0.080 6 88137716 downstream gene variant T/C snv 0.51 0.020 1.000 2 2009 2019
dbSNP: rs9470080
rs9470080
13 0.827 0.080 6 35678658 intron variant T/A;C snv 0.020 1.000 2 2018 2019
dbSNP: rs10223646
rs10223646
DSE
4 0.882 0.080 6 116296236 intron variant C/T snv 0.41 0.010 1.000 1 2020 2020
dbSNP: rs10510057
rs10510057
3 0.925 0.080 10 119551536 intergenic variant G/C snv 0.22 0.010 1.000 1 2016 2016
dbSNP: rs10766075
rs10766075
6 0.925 0.080 11 13297040 intron variant C/T snv 0.27 0.010 1.000 1 2014 2014
dbSNP: rs1082214
rs1082214
MIP
6 0.925 0.080 12 56452706 non coding transcript exon variant C/T snv 9.3E-02 0.010 1.000 1 2010 2010
dbSNP: rs10848635
rs10848635
4 0.882 0.080 12 2207029 intron variant T/A;C snv 0.34 0.010 1.000 1 2010 2010
dbSNP: rs10988134
rs10988134
4 0.925 0.080 9 128833128 3 prime UTR variant C/T snv 0.34 0.010 1.000 1 2018 2018
dbSNP: rs10997871
rs10997871
3 0.925 0.080 10 67913178 intron variant T/C snv 4.1E-03 0.010 1.000 1 2019 2019
dbSNP: rs10997875
rs10997875
4 0.882 0.080 10 67920067 downstream gene variant T/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs11022778
rs11022778
6 0.925 0.080 11 13369313 intron variant T/A;G snv 0.010 1.000 1 2014 2014
dbSNP: rs1106634
rs1106634
5 0.851 0.080 8 20208538 intron variant G/A;C;T snv 0.18 0.010 1.000 1 2016 2016
dbSNP: rs11111
rs11111
5 0.882 0.080 5 37814000 3 prime UTR variant T/C snv 0.22 0.010 1.000 1 2013 2013
dbSNP: rs112025902
rs112025902
4 0.925 0.080 4 120232669 intron variant A/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs115482041
rs115482041
4 0.925 0.080 9 4860267 missense variant C/T snv 2.6E-03 2.3E-03 0.010 1.000 1 2018 2018
dbSNP: rs11824092
rs11824092
7 0.925 0.080 11 13324747 intron variant T/C snv 0.62 0.010 1.000 1 2014 2014
dbSNP: rs1187329
rs1187329
3 0.925 0.080 9 84674365 intron variant A/G snv 0.52 0.010 1.000 1 2009 2009
dbSNP: rs11904814
rs11904814
5 0.851 0.080 2 207562074 intron variant T/G snv 0.30 0.010 1.000 1 2010 2010
dbSNP: rs11911834
rs11911834
4 0.882 0.080 21 46602608 5 prime UTR variant G/A;T snv 0.010 1.000 1 2009 2009
dbSNP: rs120074175
rs120074175
7 0.827 0.080 12 72031544 missense variant G/A snv 1.2E-05 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs12137417
rs12137417
3 0.925 0.080 1 231950407 intron variant G/A snv 0.17 0.010 1.000 1 2011 2011
dbSNP: rs12229394
rs12229394
3 0.925 0.080 12 71999134 intron variant G/A snv 0.29 0.010 1.000 1 2010 2010
dbSNP: rs12630592
rs12630592
5 0.851 0.080 3 120049399 intron variant G/A;T snv 0.010 1.000 1 2017 2017