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: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.030 0.667 3 2009 2012
dbSNP: rs10877887
rs10877887
18 0.701 0.440 12 62603400 non coding transcript exon variant T/C snv 0.42 0.020 1.000 2 2017 2018
dbSNP: rs10484761
rs10484761
7 0.807 0.080 6 40834522 intergenic variant T/C snv 0.31 0.010 < 0.001 1 2013 2013
dbSNP: rs1049253
rs1049253
4 0.851 0.160 4 184627797 3 prime UTR variant A/G snv 0.13 0.010 1.000 1 2013 2013
dbSNP: rs10882272
rs10882272
3 0.925 0.040 10 93588425 3 prime UTR variant T/C snv 0.44 0.010 1.000 1 2015 2015
dbSNP: rs10950641
rs10950641
4 0.925 0.040 7 2294751 intron variant G/A snv 2.9E-02 0.010 1.000 1 2018 2018
dbSNP: rs11016879
rs11016879
4 0.882 0.040 10 129691518 intron variant A/C;G snv 0.66 0.010 1.000 1 2018 2018
dbSNP: rs11752942
rs11752942
3 0.882 0.080 6 40354019 intron variant A/G snv 0.46 0.010 1.000 1 2017 2017
dbSNP: rs1183646267
rs1183646267
ATM
2 0.925 0.040 11 108281026 missense variant A/G snv 0.010 1.000 1 2012 2012
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2019 2019
dbSNP: rs12212067
rs12212067
20 0.716 0.320 6 108659993 intron variant T/G snv 0.14 0.010 1.000 1 2019 2019
dbSNP: rs1222213359
rs1222213359
62 0.574 0.720 6 43770966 missense variant G/A snv 0.010 1.000 1 2010 2010
dbSNP: rs1629816
rs1629816
4 0.851 0.080 3 10294607 non coding transcript exon variant G/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs1667255
rs1667255
3 0.925 0.040 18 31607316 intergenic variant A/C;G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs16943176
rs16943176
2 0.925 0.040 17 58692526 upstream gene variant G/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs17222691
rs17222691
2 0.925 0.040 17 58693735 3 prime UTR variant C/T snv 0.17 0.010 1.000 1 2014 2014
dbSNP: rs1800796
rs1800796
74 0.555 0.760 7 22726627 non coding transcript exon variant G/C snv 9.9E-02 0.010 1.000 1 2013 2013
dbSNP: rs1800896
rs1800896
113 0.507 0.800 1 206773552 intron variant T/C snv 0.41 0.010 1.000 1 2017 2017
dbSNP: rs187238
rs187238
48 0.602 0.680 11 112164265 intron variant C/A;G snv 0.010 1.000 1 2018 2018
dbSNP: rs1946518
rs1946518
46 0.602 0.760 11 112164735 intron variant T/G snv 0.60 0.010 1.000 1 2018 2018
dbSNP: rs2014300
rs2014300
5 0.851 0.080 21 34985564 intron variant A/G;T snv 0.75 0.010 < 0.001 1 2013 2013
dbSNP: rs2233406
rs2233406
12 0.732 0.440 14 35405593 upstream gene variant G/A snv 0.26 0.010 < 0.001 1 2019 2019
dbSNP: rs2243250
rs2243250
IL4
61 0.570 0.760 5 132673462 upstream gene variant C/T snv 0.35 0.010 1.000 1 2018 2018
dbSNP: rs2285947
rs2285947
7 0.807 0.120 7 21544470 intron variant G/A snv 0.44 0.010 < 0.001 1 2015 2015
dbSNP: rs2494938
rs2494938
11 0.752 0.240 6 40568389 intron variant G/A snv 0.51 0.010 1.000 1 2015 2015