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: rs1416580204
rs1416580204
MOK
49 0.608 0.720 14 102250837 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs28362491
rs28362491
56 0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 0.020 1.000 2 2018 2019
dbSNP: rs72696119
rs72696119
3 0.925 0.120 4 102501347 5 prime UTR variant C/G snv 0.43 0.010 1.000 1 2018 2018
dbSNP: rs35866072
rs35866072
17 0.716 0.360 11 102713373 missense variant T/G snv 6.0E-02 9.8E-02 0.010 1.000 1 2018 2018
dbSNP: rs34009635
rs34009635
17 0.716 0.360 11 102713445 missense variant A/G snv 2.5E-03 6.2E-04 0.010 < 0.001 1 2018 2018
dbSNP: rs28903081
rs28903081
5 0.851 0.200 14 103698934 missense variant C/A;T snv 4.5E-06; 4.3E-04 0.010 1.000 1 2014 2014
dbSNP: rs861539
rs861539
104 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 0.040 1.000 4 2008 2019
dbSNP: rs511044
rs511044
3 0.925 0.120 11 105024783 upstream gene variant T/C snv 0.010 1.000 1 2015 2015
dbSNP: rs221636
rs221636
2 1.000 0.120 6 105082089 3 prime UTR variant T/A snv 0.82 0.010 1.000 1 2014 2014
dbSNP: rs189037
rs189037
ATM ; NPAT
22 0.689 0.400 11 108223106 5 prime UTR variant G/A snv 0.49 0.020 1.000 2 2010 2019
dbSNP: rs2070894
rs2070894
5 0.851 0.160 11 111910113 3 prime UTR variant G/A snv 0.27 0.010 1.000 1 2011 2011
dbSNP: rs2228387
rs2228387
5 0.851 0.160 11 111911560 synonymous variant C/G;T snv 1.5E-02 0.010 1.000 1 2011 2011
dbSNP: rs14133
rs14133
7 0.807 0.200 11 111911973 5 prime UTR variant G/C snv 0.27 0.010 1.000 1 2011 2011
dbSNP: rs7085532
rs7085532
2 1.000 0.080 10 113099704 intron variant G/A snv 0.72 0.010 1.000 1 2020 2020
dbSNP: rs2227310
rs2227310
9 0.807 0.160 10 113729393 missense variant C/G snv 0.26 0.23 0.010 1.000 1 2015 2015
dbSNP: rs3807987
rs3807987
17 0.732 0.280 7 116539780 intron variant G/A snv 7.6E-02 0.010 1.000 1 2011 2011
dbSNP: rs7804372
rs7804372
19 0.716 0.320 7 116554174 intron variant T/A snv 0.27 0.010 1.000 1 2011 2011
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.050 1.000 5 2011 2017
dbSNP: rs1801131
rs1801131
93 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2011 2011
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.080 0.875 8 2002 2017
dbSNP: rs1801133
rs1801133
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2011 2011
dbSNP: rs8898
rs8898
5 0.925 0.120 8 11845033 3 prime UTR variant T/C snv 0.37 0.010 1.000 1 2012 2012
dbSNP: rs13332
rs13332
6 0.925 0.120 8 11849072 synonymous variant T/C;G snv 3.5E-02; 0.56 0.010 1.000 1 2012 2012
dbSNP: rs12338
rs12338
10 0.807 0.200 8 11853379 missense variant G/A;C;T snv 8.0E-06; 0.38; 2.4E-05 0.010 1.000 1 2012 2012
dbSNP: rs9879992
rs9879992
4 0.882 0.120 3 119993874 intron variant A/G snv 0.28 0.010 1.000 1 2019 2019