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: rs1051730
rs1051730
19 0.715 0.250 15 78601997 synonymous variant G/A snp 0.27 0.26 0.800 1 2009 2009
dbSNP: rs121913469
rs121913469
11 0.756 0.214 17 39723966 missense variant TT/CC multinucleotide-polymorphism 0.800 1 2004 2004
dbSNP: rs3117582
rs3117582
14 0.715 0.321 6 31652743 intron variant T/G snp 7.9E-02 0.800 1 2009 2009
dbSNP: rs31489
rs31489
10 0.769 0.214 5 1342599 intron variant C/A snp 0.42 0.800 1 2009 2009
dbSNP: rs4324798
rs4324798
5 0.878 0.143 6 28808340 regulatory region variant G/A snp 7.7E-02 0.800 1 2009 2009
dbSNP: rs13314271
rs13314271
2 0.923 0.071 3 189639813 intron variant T/C snp 0.46 0.710 1.000 1 2014 2014
dbSNP: rs1011970
rs1011970
13 0.715 0.286 9 22062135 intron variant G/T snp 0.22 0.700 1 2017 2017
dbSNP: rs1023835002
rs1023835002
10 0.756 0.250 15 44711547 start lost A/G snp 0.700 1 2016 2016
dbSNP: rs104886003
rs104886003
52 0.580 0.393 3 179218303 missense variant G/A,C snp 4.0E-06 0.700 1 2016 2016
dbSNP: rs104894226
rs104894226
19 0.692 0.464 11 534285 missense variant C/A,G,T snp 0.700 1 2016 2016
dbSNP: rs104894228
rs104894228
26 0.662 0.500 11 534286 missense variant C/A,G,T snp 0.700 1 2016 2016
dbSNP: rs104894229
rs104894229
31 0.634 0.500 11 534289 missense variant C/A,G,T snp 0.700 1 2016 2016
dbSNP: rs104894230
rs104894230
42 0.615 0.464 11 534288 missense variant C/A,G,T snp 0.700 1 2016 2016
dbSNP: rs104894231
rs104894231
8 0.784 0.321 11 533467 missense variant C/G,T snp 0.700 1 2016 2016
dbSNP: rs104894340
rs104894340
5 0.846 0.214 12 57751647 missense variant C/A,T snp 0.700 1 2016 2016
dbSNP: rs10519198
rs10519198
2 0.923 0.071 15 78450412 intron variant C/A,G snp 0.38 0.700 1 2009 2009
dbSNP: rs1056562
rs1056562
1 1.000 0.071 11 118254910 3 prime UTR variant T/C snp 0.56 0.700 1 2017 2017
dbSNP: rs1057519045
rs1057519045
7 0.821 0.179 10 121498522 missense variant T/G snp 0.700 1 2016 2016
dbSNP: rs1057519728
rs1057519728
5 0.846 0.143 15 66435103 missense variant T/A,C,G snp 0.700 1 2016 2016
dbSNP: rs1057519731
rs1057519731
2 0.923 0.071 15 66436816 missense variant G/C snp 0.700 1 2015 2015
dbSNP: rs1057519747
rs1057519747
17 0.715 0.250 17 7675094 missense variant A/C,G,T snp 0.700 1 2016 2016
dbSNP: rs1057519783
rs1057519783
ALK
2 0.923 0.071 2 29220747 missense variant C/T snp 0.700 1 2012 2012
dbSNP: rs1057519785
rs1057519785
ALK
2 0.923 0.071 2 29222404 missense variant A/C snp 0.700 1 2012 2012
dbSNP: rs1057519787
rs1057519787
2 1.000 0.071 17 39711952 missense variant G/A,C snp 0.700 1 2012 2012
dbSNP: rs1057519788
rs1057519788
1 1.000 0.071 6 117317184 missense variant C/T snp 0.700 1 2013 2013