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: rs12594
rs12594
2 0.925 0.040 1 237833787 3 prime UTR variant A/G snv 0.28 0.010 1.000 1 2019 2019
dbSNP: rs16835904
rs16835904
2 0.925 0.040 1 237833954 3 prime UTR variant C/T snv 0.17 0.010 1.000 1 2019 2019
dbSNP: rs5050
rs5050
AGT
7 0.827 0.200 1 230714140 intron variant T/C;G snv 0.010 1.000 1 2018 2018
dbSNP: rs121913500
rs121913500
96 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.040 0.750 4 2014 2018
dbSNP: rs1040177874
rs1040177874
2 0.925 0.040 2 208239914 missense variant G/A snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs121913499
rs121913499
51 0.605 0.520 2 208248389 missense variant G/A;C;T snv 0.010 1.000 1 2009 2009
dbSNP: rs9288516
rs9288516
6 0.827 0.120 2 216188541 intron variant T/A snv 5.0E-02 0.010 1.000 1 2016 2016
dbSNP: rs2378456
rs2378456
LPP
6 0.807 0.200 3 188885218 3 prime UTR variant C/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs2271338
rs2271338
5 0.827 0.080 4 61996533 intron variant G/A snv 0.26 0.010 1.000 1 2016 2016
dbSNP: rs773442580
rs773442580
EGF
7 0.851 0.080 4 109913367 missense variant T/C;G snv 4.0E-06 0.010 1.000 1 1999 1999
dbSNP: rs2431689
rs2431689
3 0.882 0.040 5 160472115 intron variant G/A snv 0.17 0.010 1.000 1 2020 2020
dbSNP: rs2853676
rs2853676
29 0.667 0.560 5 1288432 intron variant T/A;C snv 0.010 1.000 1 2013 2013
dbSNP: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.050 1.000 5 2012 2019
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.050 1.000 5 2012 2019
dbSNP: rs662
rs662
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.010 1.000 1 2010 2010
dbSNP: rs854560
rs854560
113 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 0.010 1.000 1 2010 2010
dbSNP: rs71305152
rs71305152
5 0.882 0.040 8 105437494 intron variant -/TTTTCT delins 0.43 0.010 1.000 1 2015 2015
dbSNP: rs766727892
rs766727892
3 0.925 0.040 10 113151107 missense variant G/A snv 1.2E-05 7.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs137852972
rs137852972
10 0.752 0.240 11 62702499 missense variant T/C snv 1.6E-05 0.010 1.000 1 2013 2013
dbSNP: rs1695
rs1695
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2010 2010
dbSNP: rs1801516
rs1801516
ATM
39 0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11 0.010 1.000 1 2008 2008
dbSNP: rs7115578
rs7115578
3 0.882 0.040 11 96266936 intron variant G/A snv 0.37 0.010 1.000 1 2019 2019
dbSNP: rs1476157710
rs1476157710
3 0.925 0.040 12 48970460 missense variant T/C snv 4.1E-06 1.4E-05 0.010 1.000 1 2002 2002
dbSNP: rs17522122
rs17522122
5 0.925 0.040 14 32833676 3 prime UTR variant G/T snv 0.41 0.010 1.000 1 2019 2019
dbSNP: rs4261436
rs4261436
3 0.925 0.040 14 32830276 3 prime UTR variant T/C snv 0.43 0.010 1.000 1 2019 2019