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: rs1001179
rs1001179
CAT
33 0.641 0.680 11 34438684 upstream gene variant C/T snv 0.16 0.020 1.000 2 2012 2016
dbSNP: rs10012
rs10012
16 0.716 0.280 2 38075247 missense variant G/C snv 0.31 0.36 0.030 0.667 3 2009 2015
dbSNP: rs1003623
rs1003623
ATM
2 0.925 0.080 11 108281855 intron variant C/G;T snv 0.010 1.000 1 2007 2007
dbSNP: rs10043985
rs10043985
2 0.925 0.080 5 111065770 upstream gene variant A/C snv 5.2E-02 0.010 1.000 1 2019 2019
dbSNP: rs10046
rs10046
18 0.708 0.400 15 51210789 3 prime UTR variant G/A snv 0.45 0.43 0.100 0.818 11 2008 2018
dbSNP: rs1004982
rs1004982
2 0.925 0.080 15 51321614 non coding transcript exon variant T/C;G snv 0.010 1.000 1 2008 2008
dbSNP: rs10053538
rs10053538
7 0.807 0.160 5 157110499 intron variant C/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs10057194
rs10057194
2 0.925 0.080 5 83362752 intergenic variant A/G snv 0.16 0.010 1.000 1 2012 2012
dbSNP: rs10069690
rs10069690
53 0.595 0.560 5 1279675 intron variant C/T snv 0.36 0.750 1.000 8 2011 2019
dbSNP: rs10077427
rs10077427
2 0.925 0.080 5 75542076 intron variant A/G snv 0.13 0.010 1.000 1 2016 2016
dbSNP: rs1008805
rs1008805
7 0.851 0.160 15 51257402 intron variant G/A snv 0.64 0.020 1.000 2 2008 2017
dbSNP: rs10090154
rs10090154
7 0.807 0.160 8 127519892 intergenic variant T/A;C snv 0.010 1.000 1 2008 2008
dbSNP: rs10109984
rs10109984
4 0.925 0.080 8 47891114 intron variant T/C snv 0.54 0.010 1.000 1 2008 2008
dbSNP: rs1011329790
rs1011329790
3 0.925 0.080 7 30504681 missense variant G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs1011970
rs1011970
22 0.677 0.320 9 22062135 intron variant G/T snv 0.23 0.740 1.000 6 2010 2015
dbSNP: rs1012477
rs1012477
8 0.827 0.160 1 7798075 intron variant G/C snv 0.16 0.020 1.000 2 2013 2017
dbSNP: rs10145182
rs10145182
NIN
2 0.925 0.080 14 50809291 intron variant T/A;C;G snv 0.010 1.000 1 2011 2011
dbSNP: rs10146997
rs10146997
6 0.827 0.240 14 79478819 intron variant A/G snv 0.25 0.010 1.000 1 2012 2012
dbSNP: rs10165970
rs10165970
18 0.708 0.320 2 100840527 intron variant G/A snv 0.16 0.010 1.000 1 2017 2017
dbSNP: rs1016604233
rs1016604233
1 1.000 0.080 7 139911241 missense variant C/T snv 8.0E-06 2.1E-05 0.700 0
dbSNP: rs10169372
rs10169372
2 0.925 0.080 2 217006626 intergenic variant A/G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs1017105
rs1017105
2 0.925 0.080 7 90413990 3 prime UTR variant C/T snv 0.29 0.010 1.000 1 2019 2019
dbSNP: rs1017226
rs1017226
2 0.925 0.080 5 56857565 intron variant T/C snv 5.8E-02 0.010 1.000 1 2016 2016
dbSNP: rs10175338
rs10175338
2 0.925 0.080 2 38080501 intron variant G/T snv 0.25 0.010 1.000 1 2017 2017
dbSNP: rs10204525
rs10204525
20 0.701 0.440 2 241850169 3 prime UTR variant C/T snv 0.21 0.010 1.000 1 2016 2016