Source: ALL
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: rs2621416
rs2621416
4 0.882 0.280 6 32774091 intergenic variant T/C snv 0.26 0.800 1.000 1 2013 2013
dbSNP: rs2647045
rs2647045
1 6 32700323 TF binding site variant G/A snv 0.27 0.800 1.000 1 2013 2013
dbSNP: rs4530903
rs4530903
1 6 32614112 intergenic variant C/T snv 0.10 0.800 1.000 1 2013 2013
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: rs1057519781
rs1057519781
ALK
9 0.807 0.160 2 29209816 missense variant C/G snv 0.010 1.000 1 2019 2019
dbSNP: rs2231231
rs2231231
5 0.851 0.240 9 33442988 non coding transcript exon variant A/C snv 0.67 0.69 0.010 1.000 1 2018 2018
dbSNP: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.030 1.000 3 2012 2015
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.030 1.000 3 2012 2015
dbSNP: rs1883832
rs1883832
52 0.581 0.680 20 46118343 5 prime UTR variant T/C snv 0.75 0.80 0.010 1.000 1 2008 2008
dbSNP: rs2466571
rs2466571
3 0.925 0.120 1 207766701 intron variant G/T snv 0.46 0.010 1.000 1 2014 2014
dbSNP: rs751837
rs751837
4 0.882 0.120 14 103018488 intron variant T/C snv 0.23 0.010 1.000 1 2011 2011
dbSNP: rs11547328
rs11547328
27 0.701 0.360 12 57751648 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2012 2012
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: rs74790047
rs74790047
7 0.851 0.120 12 6601978 missense variant A/C;G snv 2.0E-05; 1.2E-04; 5.2E-03 1.7E-03 0.010 1.000 1 2015 2015
dbSNP: rs555607708
rs555607708
33 0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03 0.700 0
dbSNP: rs2227307
rs2227307
6 0.851 0.240 4 73740952 intron variant T/G snv 0.45 0.010 1.000 1 2014 2014
dbSNP: rs4073
rs4073
64 0.566 0.800 4 73740307 upstream gene variant A/T snv 0.46 0.010 1.000 1 2014 2014
dbSNP: rs1802710
rs1802710
3 14 100734308 synonymous variant T/A;C snv 0.63 0.010 1.000 1 2004 2004
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
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: 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: rs867329357
rs867329357
3 0.925 0.120 13 102872275 missense variant G/A snv 4.0E-06 4.9E-05 0.010 1.000 1 2013 2013
dbSNP: rs267601394
rs267601394
8 0.807 0.200 7 148811635 missense variant T/A;G snv 0.720 1.000 4 2012 2016
dbSNP: rs1057519833
rs1057519833
3 0.925 0.120 7 148809375 missense variant G/C snv 0.710 1.000 2 2012 2012
dbSNP: rs267601395
rs267601395
7 0.925 0.160 7 148811636 missense variant A/G;T snv 0.700 1.000 1 2012 2012