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: rs587780021
rs587780021
6 0.851 0.200 2 214745842 stop gained G/A snv 2.4E-05 2.8E-05 0.700 1.000 7 2012 2016
dbSNP: rs587781948
rs587781948
5 0.882 0.200 2 214730491 stop gained G/A snv 1.6E-05 3.5E-05 0.700 1.000 4 2016 2017
dbSNP: rs587780024
rs587780024
3 0.925 0.200 2 214730458 stop gained CTGTTCACATACTTTTCTTC/-;CTGTTCACATACTTTTCTTCCTGTTCACATACTTTTCTTC delins 0.700 1.000 2 2010 2012
dbSNP: rs41295268
rs41295268
1 1.000 0.200 2 47799386 missense variant G/A;C snv 3.2E-05; 4.0E-06 0.010 < 0.001 1 2014 2014
dbSNP: rs796666047
rs796666047
3 0.925 0.200 2 214780669 stop gained G/C;T snv 8.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs977584514
rs977584514
1 1.000 0.200 2 214728813 missense variant A/G snv 0.010 1.000 1 2014 2014
dbSNP: rs879254139
rs879254139
3 0.925 0.200 2 214797118 splice acceptor variant C/A;T snv 0.700 0
dbSNP: rs587779954
rs587779954
1 1.000 0.200 3 37040264 missense variant A/G snv 8.0E-06 1.4E-05 0.700 0
dbSNP: rs1553938364
rs1553938364
1 1.000 0.200 4 83485026 frameshift variant AGCACAAAGCCCGAGAGCACCG/- delins 0.700 0
dbSNP: rs767454740
rs767454740
NBN
4 0.882 0.320 8 89982736 frameshift variant AA/- delins 7.0E-06 0.700 1.000 1 2014 2014
dbSNP: rs1554568427
rs1554568427
NBN
2 0.925 0.240 8 89981520 stop gained G/A snv 0.700 0
dbSNP: rs1057519364
rs1057519364
ATM
1 1.000 0.200 11 108253839 stop gained G/T snv 0.700 1.000 1 2016 2016
dbSNP: rs202160435
rs202160435
ATM
2 0.925 0.240 11 108247072 missense variant G/A snv 8.0E-05 6.3E-05 0.010 < 0.001 1 2014 2014
dbSNP: rs730881364
rs730881364
ATM
2 1.000 0.200 11 108284226 splice acceptor variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs770641163
rs770641163
4 0.882 0.360 11 108365208 stop gained C/G;T snv 4.0E-06; 1.2E-05 0.700 1.000 1 2016 2016
dbSNP: rs778031266
rs778031266
4 0.882 0.360 11 108316114 splice donor variant G/A snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs786202801
rs786202801
2 1.000 0.200 11 94429909 splice donor variant A/T snv 1.2E-05 7.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs1555124587
rs1555124587
1 1.000 0.200 11 108331957 stop gained G/T snv 0.700 0
dbSNP: rs376824528
rs376824528
1 1.000 0.200 11 108332789 missense variant A/G snv 1.6E-05 4.2E-05 0.700 0
dbSNP: rs61764370
rs61764370
29 0.662 0.320 12 25207290 3 prime UTR variant A/C snv 6.2E-02 0.010 1.000 1 2011 2011
dbSNP: rs28897743
rs28897743
8 0.827 0.280 13 32346896 missense variant G/A;C;T snv 4.0E-06 0.700 1.000 27 1997 2017
dbSNP: rs80359013
rs80359013
4 0.882 0.280 13 32362595 stop gained G/A;C snv 8.0E-06 0.700 1.000 23 2002 2019
dbSNP: rs80359306
rs80359306
6 0.827 0.280 13 32333284 frameshift variant A/-;AA delins 0.700 1.000 23 1997 2014
dbSNP: rs28897759
rs28897759
5 0.851 0.200 13 32394803 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.700 1.000 22 2000 2017
dbSNP: rs80359507
rs80359507
4 0.882 0.200 13 32339700 frameshift variant AAA/-;A;AA;AAAA;AAAAA delins 2.8E-05 0.700 1.000 20 1997 2016