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: rs1057519699
rs1057519699
2 3 179218315 missense variant G/A snv 0.700 1.000 8 2004 2012
dbSNP: rs1057519827
rs1057519827
2 6 152011697 missense variant G/C snv 0.700 1.000 3 2013 2014
dbSNP: rs1057519717
rs1057519717
1 6 152098785 missense variant T/G snv 0.700 1.000 2 2013 2013
dbSNP: rs1555444543
rs1555444543
1 15 28260816 inframe deletion GTCCAGTCCTGGCAA/- del 0.700 1.000 2 2006 2013
dbSNP: rs80357243
rs80357243
2 17 43063885 missense variant A/C;G snv 0.700 1.000 2 2010 2015
dbSNP: rs1057519714
rs1057519714
1 6 152094402 missense variant T/C snv 0.700 1.000 1 2013 2013
dbSNP: rs1057519716
rs1057519716
1 6 152098782 missense variant C/A snv 0.700 1.000 1 2013 2013
dbSNP: rs1057519727
rs1057519727
1 15 28260829 missense variant A/G snv 0.700 1.000 1 2013 2013
dbSNP: rs1057519737
rs1057519737
1 17 39724750 inframe insertion -/GCTCCCCAG delins 0.700 1.000 1 2013 2013
dbSNP: rs1131692241
rs1131692241
1 17 39723966 inframe deletion TGAGGGAAAACACAT/- delins 0.700 1.000 1 2013 2013
dbSNP: rs121913285
rs121913285
1 3 179218286 missense variant C/G snv 0.700 1.000 1 2014 2014
dbSNP: rs1389945622
rs1389945622
1 3 36993560 missense variant G/A;C snv 0.010 1.000 1 2011 2011
dbSNP: rs146312682
rs146312682
1 3 45595642 missense variant A/C snv 8.6E-04 7.7E-04 0.010 1.000 1 2007 2007
dbSNP: rs1555284442
rs1555284442
1 13 32340234 frameshift variant G/- del 0.700 1.000 1 2004 2004
dbSNP: rs1555582520
rs1555582520
1 17 43076486 splice donor variant A/G snv 0.700 1.000 1 2004 2004
dbSNP: rs1555913881
rs1555913881
1 22 28695841 frameshift variant T/- del 0.700 1.000 1 2004 2004
dbSNP: rs1704754
rs1704754
1 1 162790761 5 prime UTR variant C/T snv 0.70 0.62 0.010 1.000 1 2014 2014
dbSNP: rs201498575
rs201498575
1 7 55165359 missense variant G/A snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs397508979
rs397508979
1 17 43092974 frameshift variant -/GAAAAGTGAA ins 0.700 1.000 1 2016 2016
dbSNP: rs398122710
rs398122710
1 13 32371100 missense variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs555016384
rs555016384
1 6 167136139 missense variant G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs55680408
rs55680408
1 17 43095875 missense variant T/A;C snv 3.6E-05 2.8E-05 0.010 1.000 1 2016 2016
dbSNP: rs587779003
rs587779003
1 3 37004401 missense variant G/A;C snv 0.010 1.000 1 2011 2011
dbSNP: rs587782137
rs587782137
1 13 32316471 missense variant G/A;C snv 2.4E-05 0.010 1.000 1 2010 2010
dbSNP: rs730881360
rs730881360
ATM
1 11 108227629 missense variant G/A;C snv 0.010 1.000 1 2010 2010