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: rs10941679
rs10941679
11 0.763 0.120 5 44706396 intergenic variant A/G snv 0.25 0.010 1.000 1 2016 2016
dbSNP: rs7716600
rs7716600
4 0.925 0.080 5 44874903 regulatory region variant A/C;T snv 0.010 1.000 1 2014 2014
dbSNP: rs121434592
rs121434592
54 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs113994087
rs113994087
ALK
12 0.827 0.120 2 29209798 missense variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs730881360
rs730881360
ATM
1 11 108227629 missense variant G/A;C snv 0.010 1.000 1 2010 2010
dbSNP: rs1555114766
rs1555114766
1 11 108317486 stop gained G/A snv 0.700 0
dbSNP: rs28904921
rs28904921
12 0.763 0.320 11 108329202 missense variant T/G snv 4.0E-05 6.3E-05 0.700 0
dbSNP: rs2273535
rs2273535
38 0.645 0.360 20 56386485 missense variant A/C;T snv 0.28 0.010 1.000 1 2014 2014
dbSNP: rs28997576
rs28997576
11 0.776 0.160 2 214752454 missense variant C/G;T snv 1.5E-02 0.010 1.000 1 2006 2006
dbSNP: rs1553622530
rs1553622530
1 2 214781220 stop gained C/T snv 0.700 0
dbSNP: rs121913348
rs121913348
20 0.763 0.480 7 140781617 missense variant C/A;G;T snv 0.700 1.000 3 2002 2014
dbSNP: rs80357973
rs80357973
4 0.925 0.200 17 43045793 splice acceptor variant CCAATTGC/-;CCAATTGCCCAATTGC delins 0.700 1.000 13 1976 2016
dbSNP: rs80357243
rs80357243
2 17 43063885 missense variant A/C;G snv 0.700 1.000 2 2010 2015
dbSNP: rs80357772
rs80357772
4 0.925 0.200 17 43094549 frameshift variant AT/- del 0.700 1.000 2 2004 2016
dbSNP: rs1057517590
rs1057517590
2 1.000 17 43063370 frameshift variant A/- 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: rs1555599208
rs1555599208
2 1.000 17 43115726 stop gained TTGCAAAATATGTGGTCACACTTTGTGGAGACAGGTTCCTTGATCAACTCCAGA/- del 0.700 1.000 1 2016 2016
dbSNP: rs273898674
rs273898674
4 0.925 0.200 17 43093472 stop gained G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs397508940
rs397508940
2 1.000 17 43104958 splice acceptor variant T/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs397508979
rs397508979
1 17 43092974 frameshift variant -/GAAAAGTGAA ins 0.700 1.000 1 2016 2016
dbSNP: rs397508983
rs397508983
2 1.000 17 43092959 stop gained G/A;C snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs41293463
rs41293463
9 0.790 0.280 17 43051071 missense variant A/C;T snv 1.2E-05 0.010 1.000 1 1999 1999
dbSNP: rs41293465
rs41293465
6 0.851 0.200 17 43045767 stop gained G/A snv 1.2E-05 0.700 1.000 1 2016 2016
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: rs587781632
rs587781632
4 0.925 0.200 17 43106476 splice donor variant A/C;T snv 0.700 1.000 1 2016 2016