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: rs866419664
rs866419664
5 0.882 0.040 17 7673821 frameshift variant -/TCCCA delins 0.010 1.000 1 2002 2002
dbSNP: rs71305152
rs71305152
5 0.882 0.040 8 105437494 intron variant -/TTTTCT delins 0.43 0.010 1.000 1 2015 2015
dbSNP: rs6010620
rs6010620
21 0.701 0.360 20 63678486 intron variant A/C;G snv 0.010 1.000 1 2013 2013
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: 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: 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: 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: rs1801275
rs1801275
58 0.581 0.680 16 27363079 missense variant A/G snv 0.25 0.36 0.010 1.000 1 2016 2016
dbSNP: rs6089953
rs6089953
3 0.882 0.080 20 63659655 intron variant A/G snv 0.82 0.010 1.000 1 2015 2015
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: 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: rs371409680
rs371409680
10 0.790 0.120 17 7673772 missense variant C/G;T snv 4.0E-05 7.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs118101777
rs118101777
42 0.614 0.280 15 90087472 missense variant C/T snv 2.0E-03 1.6E-03 0.020 0.500 2 2015 2018
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: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.050 1.000 5 2012 2019
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: 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: rs2271338
rs2271338
5 0.827 0.080 4 61996533 intron variant G/A snv 0.26 0.010 1.000 1 2016 2016
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: rs3745601
rs3745601
3 0.882 0.120 19 10113872 missense variant G/A snv 0.16 0.13 0.010 1.000 1 2014 2014
dbSNP: rs55832599
rs55832599
18 0.716 0.360 17 7673821 missense variant G/A snv 0.010 1.000 1 2002 2002
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: 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: rs861539
rs861539
104 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 0.010 1.000 1 2012 2012
dbSNP: rs868162712
rs868162712
3 0.925 0.040 18 55279598 missense variant G/A snv 0.010 1.000 1 2002 2002