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: rs116446171
rs116446171
4 0.851 0.160 6 484453 downstream gene variant C/G snv 2.3E-02 0.710 1.000 2 2014 2015
dbSNP: rs10484561
rs10484561
6 0.827 0.160 6 32697643 intergenic variant T/G snv 0.13 0.010 1.000 1 2011 2011
dbSNP: rs4733601
rs4733601
1 1.000 0.120 8 128257220 TF binding site variant A/G snv 0.41 0.700 1.000 1 2014 2014
dbSNP: rs6457327
rs6457327
7 0.790 0.320 6 31106253 downstream gene variant A/C snv 0.66 0.010 1.000 1 2014 2014
dbSNP: rs6773363
rs6773363
1 1.000 0.120 3 27752141 intergenic variant T/A;C snv 0.010 1.000 1 2020 2020
dbSNP: rs7765004
rs7765004
2 0.925 0.120 6 113750518 regulatory region variant A/C snv 0.32 0.700 1.000 1 2015 2015
dbSNP: rs79480871
rs79480871
2 0.925 0.160 2 24471603 intergenic variant C/T snv 9.3E-02 0.700 1.000 1 2014 2014
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.040 1.000 4 2013 2016
dbSNP: rs2032582
rs2032582
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.040 1.000 4 2013 2016
dbSNP: rs1128503
rs1128503
64 0.564 0.760 7 87550285 synonymous variant A/G snv 0.54 0.63 0.010 1.000 1 2016 2016
dbSNP: rs1164376164
rs1164376164
6 0.851 0.200 7 87601024 5 prime UTR variant A/G snv 0.010 1.000 1 2013 2013
dbSNP: rs1390458638
rs1390458638
2 0.925 0.120 2 219216441 missense variant G/A snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs2231137
rs2231137
13 0.752 0.400 4 88139962 missense variant C/T snv 0.11 7.4E-02 0.030 1.000 3 2007 2017
dbSNP: rs2231142
rs2231142
56 0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12 0.020 1.000 2 2007 2008
dbSNP: rs41289586
rs41289586
3 0.882 0.160 3 43577066 missense variant C/T snv 1.8E-02 1.9E-02 0.010 1.000 1 2019 2019
dbSNP: rs79464052
rs79464052
1 1.000 0.120 5 141655607 intron variant G/C snv 7.1E-02 7.8E-02 0.700 1.000 1 2014 2014
dbSNP: rs3218674
rs3218674
ATM
2 1.000 0.120 11 108244860 synonymous variant C/G;T snv 1.1E-02 1.1E-02 0.010 1.000 1 2002 2002
dbSNP: rs1801018
rs1801018
6 0.851 0.240 18 63318646 synonymous variant T/C snv 0.37 0.32 0.010 1.000 1 2017 2017
dbSNP: rs2279115
rs2279115
18 0.724 0.320 18 63319604 5 prime UTR variant G/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs1880030
rs1880030
2 0.925 0.120 12 122046634 intron variant G/A snv 0.39 0.010 1.000 1 2009 2009
dbSNP: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs121913338
rs121913338
24 0.677 0.400 7 140753354 missense variant T/A;C;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 2012 2012
dbSNP: rs172378
rs172378
11 0.790 0.240 1 22638945 synonymous variant A/G snv 0.49 0.51 0.020 1.000 2 2012 2012
dbSNP: rs3813729
rs3813729
C1R ; C1RL
2 0.925 0.120 12 7089608 missense variant C/G;T snv 0.010 1.000 1 2012 2012