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: rs698
rs698
20 0.724 0.240 4 99339632 missense variant T/A;C snv 0.35 0.010 1.000 1 2010 2010
dbSNP: rs1501299
rs1501299
52 0.597 0.720 3 186853334 intron variant G/C;T snv 0.010 1.000 1 2014 2014
dbSNP: rs4994
rs4994
65 0.578 0.640 8 37966280 missense variant A/G snv 0.11 9.2E-02 0.010 1.000 1 2014 2014
dbSNP: rs1209809979
rs1209809979
3 0.925 0.120 1 45568989 missense variant A/G snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs121434592
rs121434592
54 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs671
rs671
116 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 0.010 1.000 1 2009 2009
dbSNP: rs940553638
rs940553638
6 0.827 0.200 12 111783222 missense variant G/A snv 1.6E-05 7.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs1130409
rs1130409
72 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 0.010 1.000 1 2006 2006
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 2009 2009
dbSNP: rs786203926
rs786203926
ATM
4 0.882 0.120 11 108227678 synonymous variant T/C snv 0.010 1.000 1 2009 2009
dbSNP: rs1153280
rs1153280
2 1.000 0.120 21 29305751 intron variant G/A snv 0.52 0.700 1.000 1 2011 2011
dbSNP: rs1153287
rs1153287
1 1.000 0.120 21 29313290 intron variant G/A;T snv 0.700 1.000 1 2011 2011
dbSNP: rs1153294
rs1153294
1 1.000 0.120 21 29328775 intron variant T/C;G snv 0.700 1.000 1 2011 2011
dbSNP: rs117214
rs117214
1 1.000 0.120 21 29348513 intron variant C/T snv 0.45 0.700 1.000 1 2011 2011
dbSNP: rs2027605
rs2027605
3 1.000 0.120 21 29354452 intron variant A/G snv 0.48 0.700 1.000 1 2011 2011
dbSNP: rs2832290
rs2832290
1 1.000 0.120 21 29356542 intron variant A/G snv 0.48 0.700 1.000 1 2011 2011
dbSNP: rs372883
rs372883
5 0.827 0.360 21 29345416 3 prime UTR variant T/C snv 0.53 0.700 1.000 1 2011 2011
dbSNP: rs708224
rs708224
2 0.925 0.120 12 32283475 intron variant A/G snv 0.50 0.700 1.000 1 2010 2010
dbSNP: rs9904341
rs9904341
20 0.695 0.280 17 78214286 5 prime UTR variant G/A;C;T snv 0.38; 4.8E-06 0.010 1.000 1 2015 2015
dbSNP: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.020 0.500 2 2003 2015
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.020 0.500 2 2003 2015
dbSNP: rs1799966
rs1799966
8 0.807 0.280 17 43071077 missense variant T/A;C snv 5.2E-05; 0.35 0.010 1.000 1 2017 2017
dbSNP: rs11571836
rs11571836
6 0.827 0.200 13 32399302 3 prime UTR variant A/G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs397507851
rs397507851
3 0.925 0.120 13 32340761 frameshift variant AAATGTT/- delins 0.700 1.000 1 2004 2004
dbSNP: rs80358683
rs80358683
5 0.851 0.120 13 32338880 stop gained C/T snv 0.700 1.000 1 2004 2004