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: rs10190751
rs10190751
4 0.882 0.120 2 201141373 splice acceptor variant G/A snv 0.18 0.26 0.010 1.000 1 2009 2009
dbSNP: rs1042522
rs1042522
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2012 2012
dbSNP: rs1042752
rs1042752
3 0.925 0.120 11 111352386 3 prime UTR variant A/G snv 0.39 0.010 1.000 1 2017 2017
dbSNP: rs10494879
rs10494879
3 0.925 0.120 1 206778859 intron variant C/A;G snv 0.36 0.010 1.000 1 2008 2008
dbSNP: rs1057519781
rs1057519781
ALK
9 0.807 0.160 2 29209816 missense variant C/G snv 0.010 1.000 1 2019 2019
dbSNP: rs1057519833
rs1057519833
3 0.925 0.120 7 148809375 missense variant G/C snv 0.010 1.000 1 2012 2012
dbSNP: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2012 2012
dbSNP: rs11466782
rs11466782
3 0.925 0.120 5 157494947 intron variant A/G snv 0.10 0.010 1.000 1 2011 2011
dbSNP: rs11540652
rs11540652
57 0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 0.020 1.000 2 2013 2017
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 1.000 2 2004 2017
dbSNP: rs121913105
rs121913105
30 0.653 0.600 4 1806163 missense variant A/C;T snv 0.010 1.000 1 2007 2007
dbSNP: rs121913237
rs121913237
50 0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs121913482
rs121913482
45 0.630 0.680 4 1801837 missense variant C/T snv 0.010 1.000 1 2007 2007
dbSNP: rs121913485
rs121913485
18 0.716 0.400 4 1804372 missense variant A/G snv 0.010 1.000 1 2007 2007
dbSNP: rs121913503
rs121913503
23 0.689 0.200 15 90088606 missense variant C/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs121913529
rs121913529
144 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs1257715362
rs1257715362
3 0.925 0.120 4 85995065 missense variant A/G snv 7.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs13181
rs13181
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.010 1.000 1 2009 2009
dbSNP: rs1351687973
rs1351687973
3 0.925 0.120 1 3731497 missense variant G/A snv 1.6E-05 0.010 1.000 1 2001 2001
dbSNP: rs1353428252
rs1353428252
5 0.851 0.120 15 90088681 missense variant A/C snv 8.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs138228187
rs138228187
3 0.925 0.120 11 126292650 missense variant C/T snv 4.0E-05 1.4E-05 0.010 1.000 1 2019 2019
dbSNP: rs1555525126
rs1555525126
3 0.925 0.120 17 7673749 missense variant T/C snv 0.010 1.000 1 2001 2001
dbSNP: rs1695
rs1695
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2013 2013
dbSNP: rs17655
rs17655
52 0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 0.010 < 0.001 1 2013 2013
dbSNP: rs1799793
rs1799793
72 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.010 1.000 1 2009 2009