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: rs401681
rs401681
42 0.620 0.640 5 1321972 intron variant C/T snv 0.48 0.860 1.000 7 2010 2015
dbSNP: rs45430
rs45430
MX2
1 1.000 0.040 21 41374154 intron variant C/T snv 0.48 0.820 1.000 4 2011 2019
dbSNP: rs3219090
rs3219090
1 1.000 0.040 1 226376990 intron variant T/C snv 0.58 0.820 1.000 2 2011 2013
dbSNP: rs7023329
rs7023329
9 0.790 0.160 9 21816529 intron variant A/G snv 0.50 0.810 1.000 5 2009 2017
dbSNP: rs1801516
rs1801516
ATM
39 0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11 0.810 1.000 3 2011 2017
dbSNP: rs910873
rs910873
3 0.882 0.160 20 34583968 intron variant G/A;C snv 0.810 0.667 3 2008 2017
dbSNP: rs17119461
rs17119461
1 1.000 0.040 10 105756594 intergenic variant T/C snv 7.7E-02 0.810 1.000 2 2012 2014
dbSNP: rs4698934
rs4698934
1 1.000 0.040 4 105218230 intron variant T/C snv 0.12 0.810 1.000 1 2014 2014
dbSNP: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.800 0.979 477 2002 2020
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.800 0.981 464 2002 2020
dbSNP: rs121913227
rs121913227
31 0.653 0.320 7 140753336 missense variant AC/CT;TT mnv 0.800 1.000 54 2002 2020
dbSNP: rs11554290
rs11554290
59 0.583 0.600 1 114713908 missense variant T/A;C;G snv 0.800 1.000 32 1989 2019
dbSNP: rs1057519695
rs1057519695
35 0.641 0.520 1 114713907 missense variant TT/CA;CC mnv 0.800 1.000 30 1989 2019
dbSNP: rs1057519834
rs1057519834
31 0.658 0.480 1 114713908 missense variant TG/CT mnv 0.800 1.000 16 2005 2019
dbSNP: rs1805007
rs1805007
25 0.695 0.280 16 89919709 missense variant C/A;G;T snv 4.4E-02 0.800 0.938 16 2001 2019
dbSNP: rs104894094
rs104894094
12 0.763 0.200 9 21971058 missense variant C/A;G;T snv 8.5E-06; 4.3E-06 0.800 1.000 10 1999 2016
dbSNP: rs258322
rs258322
3 0.925 0.120 16 89689495 intron variant A/G;T snv 0.800 1.000 6 2009 2017
dbSNP: rs1393350
rs1393350
7 0.851 0.160 11 89277878 intron variant G/A snv 0.17 0.800 1.000 4 2009 2017
dbSNP: rs121913351
rs121913351
9 0.776 0.240 7 140781611 missense variant C/A;G;T snv 4.0E-06 0.800 1.000 2 2013 2014
dbSNP: rs13016963
rs13016963
5 0.851 0.080 2 201298088 intron variant A/G snv 0.59 0.800 1.000 2 2011 2017
dbSNP: rs16953002
rs16953002
FTO
5 0.882 0.080 16 54080912 intron variant G/A snv 0.19 0.800 1.000 2 2013 2017
dbSNP: rs1885120
rs1885120
2 1.000 0.040 20 34989186 intron variant C/G snv 0.96 0.800 1.000 2 2008 2017
dbSNP: rs2284063
rs2284063
4 0.851 0.160 22 38148291 non coding transcript exon variant A/G snv 0.40 0.800 1.000 2 2009 2017
dbSNP: rs4785763
rs4785763
3 0.925 0.120 16 90000528 non coding transcript exon variant A/C;T snv 0.800 1.000 2 2009 2017
dbSNP: rs7412746
rs7412746
1 1.000 0.040 1 150887995 intron variant C/T snv 0.41 0.800 1.000 2 2011 2017