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: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 1.000 10 2008 2019
dbSNP: rs965513
rs965513
15 0.742 0.200 9 97793827 intron variant A/G;T snv 0.070 0.714 7 2014 2018
dbSNP: rs944289
rs944289
16 0.742 0.200 14 36180040 upstream gene variant C/T snv 0.45 0.040 0.750 4 2014 2018
dbSNP: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.020 1.000 2 2015 2015
dbSNP: rs116909374
rs116909374
11 0.776 0.120 14 36269155 regulatory region variant C/T snv 2.3E-02 0.020 < 0.001 2 2016 2016
dbSNP: rs1447295
rs1447295
29 0.658 0.400 8 127472793 intron variant A/C;T snv 0.020 0.500 2 2011 2013
dbSNP: rs1867277
rs1867277
10 0.776 0.160 9 97853632 5 prime UTR variant A/G snv 0.63 0.020 1.000 2 2015 2018
dbSNP: rs878854066
rs878854066
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.020 1.000 2 2015 2015
dbSNP: rs10136427
rs10136427
2 0.925 14 75513546 intergenic variant C/T snv 0.21 0.010 1.000 1 2014 2014
dbSNP: rs1057519695
rs1057519695
35 0.641 0.520 1 114713907 missense variant TT/CA;CC mnv 0.010 1.000 1 2014 2014
dbSNP: rs1057519834
rs1057519834
31 0.658 0.480 1 114713908 missense variant TG/CT mnv 0.010 1.000 1 2014 2014
dbSNP: rs10741657
rs10741657
34 0.637 0.520 11 14893332 upstream gene variant A/G snv 0.65 0.010 1.000 1 2012 2012
dbSNP: rs10808556
rs10808556
2 0.925 0.080 8 127400902 non coding transcript exon variant C/T snv 0.50 0.010 1.000 1 2013 2013
dbSNP: rs10877012
rs10877012
10 0.763 0.280 12 57768302 intron variant G/C;T snv 0.010 1.000 1 2012 2012
dbSNP: rs11175834
rs11175834
2 0.925 0.080 12 65598856 intron variant C/T snv 0.14 0.700 1.000 1 2017 2017
dbSNP: rs11554290
rs11554290
59 0.583 0.600 1 114713908 missense variant T/A;C;G snv 0.010 1.000 1 2014 2014
dbSNP: rs1220597
rs1220597
2 0.925 13 24243875 intron variant C/T snv 0.51 0.010 1.000 1 2014 2014
dbSNP: rs12885300
rs12885300
7 0.790 0.200 14 80211923 5 prime UTR variant C/A;G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs12990503
rs12990503
2 0.925 0.080 2 217429494 intron variant C/G snv 0.64 0.700 1.000 1 2017 2017
dbSNP: rs13184587
rs13184587
2 0.925 5 78910960 intron variant G/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs16962916
rs16962916
2 0.925 16 13806476 intergenic variant A/C;G snv 0.010 1.000 1 2016 2016
dbSNP: rs17739370
rs17739370
2 0.925 4 177374275 intergenic variant C/T snv 0.38 0.010 1.000 1 2016 2016
dbSNP: rs1874564
rs1874564
2 0.925 0.080 4 76936952 intergenic variant G/A snv 0.58 0.700 1.000 1 2017 2017
dbSNP: rs189037
rs189037
ATM ; NPAT
22 0.689 0.400 11 108223106 5 prime UTR variant G/A snv 0.49 0.010 1.000 1 2012 2012
dbSNP: rs2048722
rs2048722
TPO
2 0.925 2 1492028 intron variant A/G snv 0.51 0.010 1.000 1 2013 2013