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: rs3824662
rs3824662
11 0.752 0.320 10 8062245 intron variant C/A;T snv 0.020 1.000 2 2013 2017
dbSNP: rs7088318
rs7088318
4 0.851 0.120 10 22564019 intron variant C/A snv 0.55 0.020 1.000 2 2013 2016
dbSNP: rs899127658
rs899127658
F2
82 0.547 0.720 11 46739084 missense variant G/A;C snv 0.020 1.000 2 1999 2018
dbSNP: rs924607
rs924607
7 0.851 0.120 5 609978 intron variant C/T snv 0.32 0.020 1.000 2 2016 2019
dbSNP: rs10106
rs10106
4 0.851 0.200 9 127813796 3 prime UTR variant T/C snv 0.45 0.010 1.000 1 2015 2015
dbSNP: rs10235796
rs10235796
3 0.882 0.120 7 50394939 intron variant T/C snv 0.82 0.010 1.000 1 2017 2017
dbSNP: rs1042522
rs1042522
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2013 2013
dbSNP: rs104893636
rs104893636
3 0.882 0.120 2 176151875 missense variant A/C;T snv 5.2E-06; 7.9E-04 0.010 1.000 1 2005 2005
dbSNP: rs1051296
rs1051296
3 0.882 0.120 21 45514947 3 prime UTR variant A/C snv 0.43 0.44 0.010 1.000 1 2014 2014
dbSNP: rs10519612
rs10519612
3 0.882 0.120 4 141732548 intron variant A/C snv 0.10 0.010 1.000 1 2015 2015
dbSNP: rs1057519743
rs1057519743
6 0.827 0.120 Y 1196852 missense variant A/C snv 0.010 1.000 1 2012 2012
dbSNP: rs1057519866
rs1057519866
5 0.851 0.120 10 103093198 missense variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs10828317
rs10828317
9 0.776 0.280 10 22550699 missense variant T/C snv 0.010 1.000 1 2013 2013
dbSNP: rs11099592
rs11099592
5 0.851 0.160 4 83309466 missense variant T/C snv 0.78 0.80 0.010 1.000 1 2007 2007
dbSNP: rs111033563
rs111033563
8 0.776 0.240 6 26092916 missense variant A/C snv 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs111978267
rs111978267
3 0.882 0.120 11 2751648 intron variant C/G;T snv 2.8E-05 0.010 1.000 1 2019 2019
dbSNP: rs1169704167
rs1169704167
ATM
3 0.882 0.120 11 108284370 frameshift variant -/T delins 8.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs1188383936
rs1188383936
F2
102 0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs1194008138
rs1194008138
3 0.882 0.120 5 143400121 missense variant T/C snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs1206846668
rs1206846668
16 0.724 0.400 11 49185773 missense variant G/A snv 4.1E-06 0.010 1.000 1 2012 2012
dbSNP: rs12402181
rs12402181
3 0.882 0.120 1 66628488 mature miRNA variant G/A snv 0.17 0.24 0.010 1.000 1 2018 2018
dbSNP: rs12434881
rs12434881
3 0.882 0.120 14 23119433 5 prime UTR variant G/A snv 0.36 0.010 1.000 1 2017 2017
dbSNP: rs1275561861
rs1275561861
23 0.672 0.360 6 29944350 missense variant G/A snv 0.010 1.000 1 2013 2013
dbSNP: rs12803915
rs12803915
3 0.882 0.120 11 65444508 non coding transcript exon variant G/A snv 0.16 0.17 0.010 1.000 1 2014 2014
dbSNP: rs1296957097
rs1296957097
3 0.882 0.120 22 28719401 missense variant A/G snv 0.010 1.000 1 2006 2006