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: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.050 1.000 5 2003 2015
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.050 1.000 5 2011 2017
dbSNP: rs878854066
rs878854066
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.050 1.000 5 2003 2015
dbSNP: rs1800872
rs1800872
119 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 0.030 1.000 3 2008 2016
dbSNP: rs3025039
rs3025039
62 0.576 0.720 6 43784799 3 prime UTR variant C/T snv 0.13 0.030 1.000 3 2012 2013
dbSNP: rs174549
rs174549
12 0.851 0.240 11 61803910 5 prime UTR variant G/A snv 0.26 0.020 1.000 2 2017 2017
dbSNP: rs1800871
rs1800871
108 0.508 0.800 1 206773289 5 prime UTR variant A/G snv 0.69 0.020 1.000 2 2008 2016
dbSNP: rs1800896
rs1800896
113 0.507 0.800 1 206773552 intron variant T/C snv 0.41 0.020 1.000 2 2014 2016
dbSNP: rs189037
rs189037
ATM ; NPAT
22 0.689 0.400 11 108223106 5 prime UTR variant G/A snv 0.49 0.020 1.000 2 2010 2019
dbSNP: rs2040639
rs2040639
2 1.000 0.080 7 152678103 upstream gene variant T/C;G snv 0.020 1.000 2 2008 2015
dbSNP: rs243865
rs243865
48 0.600 0.640 16 55477894 intron variant C/T snv 0.19 0.020 1.000 2 2017 2018
dbSNP: rs28360317
rs28360317
15 0.716 0.280 5 83323739 intron variant -/CCT delins 0.24 0.020 1.000 2 2008 2008
dbSNP: rs28362491
rs28362491
56 0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 0.020 1.000 2 2018 2019
dbSNP: rs6869366
rs6869366
18 0.701 0.280 5 83075927 intron variant T/G snv 9.2E-02 0.020 1.000 2 2008 2008
dbSNP: rs10090787
rs10090787
3 1.000 0.080 8 120798309 intron variant C/T snv 0.34 0.010 1.000 1 2017 2017
dbSNP: rs10399805
rs10399805
7 0.851 0.240 1 203186870 upstream gene variant G/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs10462706
rs10462706
6 0.827 0.080 5 1343679 intron variant C/T snv 0.14 0.700 1.000 1 2016 2016
dbSNP: rs1048638
rs1048638
CA9
10 0.807 0.160 9 35681125 3 prime UTR variant C/A;G snv 0.010 < 0.001 1 2012 2012
dbSNP: rs1057035
rs1057035
12 0.763 0.440 14 95087805 3 prime UTR variant T/C snv 0.26 0.010 1.000 1 2012 2012
dbSNP: rs10851478
rs10851478
6 0.827 0.080 15 49536822 intron variant T/C snv 0.30 0.700 1.000 1 2016 2016
dbSNP: rs10889677
rs10889677
40 0.627 0.720 1 67259437 3 prime UTR variant C/A snv 0.27 0.010 1.000 1 2012 2012
dbSNP: rs10900598
rs10900598
4 0.882 0.120 1 204556440 3 prime UTR variant G/C;T snv 0.38 0.010 1.000 1 2012 2012
dbSNP: rs11130760
rs11130760
2 1.000 0.080 3 60210809 intron variant G/T snv 0.12 0.010 1.000 1 2017 2017
dbSNP: rs11685387
rs11685387
9 0.776 0.240 2 216109091 splice region variant C/T snv 0.30 0.010 1.000 1 2009 2009
dbSNP: rs11801299
rs11801299
9 0.807 0.200 1 204559956 downstream gene variant G/A snv 0.16 0.010 1.000 1 2012 2012