Source: ALL
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: rs76886731
rs76886731
1 1.000 0.040 2 102328956 intron variant A/T snv 0.48 0.700 1.000 1 2015 2015
dbSNP: rs2058660
rs2058660
4 0.882 0.280 2 102437989 intron variant G/A snv 0.78 0.010 1.000 1 2015 2015
dbSNP: rs77061563
rs77061563
1 1.000 0.040 16 11358685 intron variant C/G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs10982385
rs10982385
1 1.000 0.040 9 114730737 intergenic variant T/G snv 0.47 0.700 1.000 1 2009 2009
dbSNP: rs4574921
rs4574921
3 0.882 0.160 9 114776054 upstream gene variant C/T snv 0.80 0.700 1.000 1 2009 2009
dbSNP: rs10114470
rs10114470
4 0.882 0.080 9 114785492 3 prime UTR variant T/A;C snv 0.700 1.000 1 2009 2009
dbSNP: rs6478108
rs6478108
10 0.763 0.200 9 114796423 intron variant C/T snv 0.73 0.810 1.000 3 2009 2016
dbSNP: rs4366152
rs4366152
1 1.000 0.040 9 114802595 intron variant T/C snv 0.75 0.700 1.000 1 2015 2015
dbSNP: rs4979462
rs4979462
7 0.790 0.240 9 114804733 intron variant C/T snv 0.13 0.010 1.000 1 2016 2016
dbSNP: rs6478109
rs6478109
12 0.752 0.320 9 114806486 upstream gene variant A/G snv 0.74 0.010 1.000 1 2016 2016
dbSNP: rs10817758
rs10817758
1 1.000 0.040 9 115381654 intron variant C/T snv 0.13 0.700 1.000 1 2015 2015
dbSNP: rs10100465
rs10100465
1 1.000 0.040 8 117614040 intergenic variant G/A snv 0.23 0.700 1.000 1 2016 2016
dbSNP: rs4986790
rs4986790
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs55894533
rs55894533
1 1.000 0.040 8 11891733 downstream gene variant A/C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs6807915
rs6807915
1 1.000 0.040 3 12272347 intergenic variant T/C snv 0.65 0.700 1.000 1 2016 2016
dbSNP: rs3097940
rs3097940
1 1.000 0.040 4 123863618 non coding transcript exon variant C/T snv 0.48 0.700 1.000 1 2011 2011
dbSNP: rs8177374
rs8177374
22 0.672 0.520 11 126292948 missense variant C/T snv 0.12 0.11 0.010 1.000 1 2009 2009
dbSNP: rs3793964
rs3793964
4 0.882 0.120 11 1280752 intron variant T/C snv 0.66 0.010 1.000 1 2016 2016
dbSNP: rs3811140
rs3811140
1 1.000 0.040 9 134880265 upstream gene variant A/G snv 0.15 0.010 1.000 1 2013 2013
dbSNP: rs7851696
rs7851696
5 0.827 0.320 9 134887245 missense variant G/C;T snv 0.12 0.14 0.010 1.000 1 2013 2013
dbSNP: rs13220141
rs13220141
1 1.000 0.040 6 146576497 intergenic variant A/T snv 8.2E-02 0.700 1.000 1 2015 2015
dbSNP: rs2275606
rs2275606
2 0.925 0.040 6 146597814 intron variant G/A snv 7.7E-02 0.810 1.000 2 2011 2016
dbSNP: rs3804099
rs3804099
40 0.627 0.680 4 153703504 synonymous variant T/C snv 0.40 0.48 0.010 1.000 1 2017 2017
dbSNP: rs121917864
rs121917864
31 0.645 0.520 4 153704936 missense variant C/T snv 8.8E-05 9.8E-05 0.010 1.000 1 2005 2005
dbSNP: rs295340
rs295340
1 1.000 0.040 6 159164909 upstream gene variant A/G snv 0.53 0.010 1.000 1 2016 2016