Source: BEFREE ×
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
36 0.620 0.640 5 1321972 intron variant C/T snv 0.48 0.860 1.000 6 2010 2015
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: rs45430
rs45430
MX2
1 1.000 0.040 21 41374154 intron variant C/T snv 0.48 0.820 1.000 2 2011 2019
dbSNP: rs17119461
rs17119461
1 1.000 0.040 10 105756594 intergenic variant T/C snv 7.7E-02 0.810 1.000 1 2012 2014
dbSNP: rs1801516
rs1801516
ATM
37 0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11 0.810 1.000 1 2011 2017
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: rs7023329
rs7023329
8 0.790 0.160 9 21816529 intron variant A/G snv 0.50 0.810 1.000 1 2009 2017
dbSNP: rs910873
rs910873
2 0.882 0.160 20 34583968 intron variant G/A;C snv 0.810 0.667 1 2008 2017
dbSNP: rs113488022
rs113488022
484 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.800 0.979 454 2002 2020
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.800 0.981 452 2002 2020
dbSNP: rs121913227
rs121913227
31 0.653 0.320 7 140753336 missense variant AC/CT;TT mnv 0.800 1.000 34 2002 2020
dbSNP: rs1057519695
rs1057519695
35 0.641 0.520 1 114713907 missense variant TT/CA;CC mnv 0.800 1.000 16 1989 2019
dbSNP: rs11554290
rs11554290
38 0.583 0.600 1 114713908 missense variant T/A;C;G snv 0.800 1.000 16 1989 2019
dbSNP: rs1057519834
rs1057519834
31 0.658 0.480 1 114713908 missense variant TG/CT mnv 0.800 1.000 15 2005 2019
dbSNP: rs1805007
rs1805007
11 0.695 0.280 16 89919709 missense variant C/A;G;T snv 4.4E-02 0.800 0.938 15 2001 2019
dbSNP: rs104894094
rs104894094
7 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: rs121913254
rs121913254
29 0.658 0.440 1 114713909 stop gained G/A;C;T snv 0.780 1.000 8 1989 2016
dbSNP: rs121913513
rs121913513
KIT
9 0.776 0.120 4 54727495 missense variant T/C snv 0.760 1.000 6 1995 2016
dbSNP: rs104894097
rs104894097
2 0.807 0.240 9 21974757 missense variant C/A;G;T snv 1.7E-05; 1.3E-05 0.750 1.000 5 1995 2015
dbSNP: rs1057519742
rs1057519742
6 0.827 0.160 19 3118944 missense variant A/C;T snv 0.750 1.000 5 1989 2018
dbSNP: rs16891982
rs16891982
6 0.776 0.200 5 33951588 missense variant C/A;G snv 0.65 0.750 0.833 5 2008 2017
dbSNP: rs104894340
rs104894340
1 0.827 0.200 12 57751647 missense variant C/A;T snv 0.740 0.600 4 2003 2014
dbSNP: rs121913237
rs121913237
42 0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06 0.740 1.000 4 1989 2016
dbSNP: rs121913492
rs121913492
11 0.790 0.160 9 77794572 missense variant T/A;C;G snv 0.740 1.000 4 1989 2018
dbSNP: rs1126809
rs1126809
12 0.683 0.320 11 89284793 missense variant G/A snv 0.18 0.18 0.730 1.000 3 2008 2014