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: rs11536898
rs11536898
3 0.882 0.080 9 117717932 3 prime UTR variant C/A snv 0.14 0.010 1.000 1 2012 2012
dbSNP: rs2273626
rs2273626
2 0.925 0.120 14 22956973 mature miRNA variant C/A snv 0.58 0.41 0.010 1.000 1 2018 2018
dbSNP: rs4803455
rs4803455
11 0.752 0.280 19 41345604 intron variant C/A snv 0.51 0.010 1.000 1 2011 2011
dbSNP: rs7542081
rs7542081
2 1.000 0.080 1 67237570 intron variant C/A snv 0.56 0.010 1.000 1 2012 2012
dbSNP: rs3219489
rs3219489
24 0.672 0.360 1 45331833 missense variant C/A;G snv 0.29 0.27 0.010 1.000 1 2010 2010
dbSNP: rs4659382
rs4659382
1 1.000 0.080 1 25808435 intron variant C/A;G snv 0.010 1.000 1 2012 2012
dbSNP: rs1800947
rs1800947
CRP
28 0.683 0.440 1 159713648 splice region variant C/A;G;T snv 4.4E-05; 5.1E-02; 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs2227935
rs2227935
BLM
2 0.925 0.080 15 90782869 missense variant C/A;G;T snv 4.0E-06; 5.6E-02 0.010 1.000 1 2010 2010
dbSNP: rs266729
rs266729
37 0.637 0.560 3 186841685 upstream gene variant C/A;G;T snv 0.010 1.000 1 2011 2011
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: rs1800449
rs1800449
LOX
33 0.641 0.400 5 122077513 missense variant C/A;T snv 4.0E-06; 0.17 0.010 1.000 1 2016 2016
dbSNP: rs63750114
rs63750114
5 0.827 0.160 3 37049015 stop gained C/A;T snv 4.9E-04 0.010 1.000 1 2006 2006
dbSNP: rs730881833
rs730881833
6 0.827 0.160 1 45332242 missense variant C/A;T snv 4.0E-06; 2.8E-05 0.010 1.000 1 2007 2007
dbSNP: rs1801282
rs1801282
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.020 0.500 2 2005 2010
dbSNP: rs1805192
rs1805192
121 0.510 0.840 3 12379739 missense variant C/G snv 0.020 0.500 2 2005 2010
dbSNP: rs1052133
rs1052133
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.010 1.000 1 2017 2017
dbSNP: rs1143623
rs1143623
29 0.677 0.440 2 112838252 upstream gene variant C/G snv 0.24 0.010 1.000 1 2018 2018
dbSNP: rs3775292
rs3775292
5 0.851 0.080 4 186081871 non coding transcript exon variant C/G snv 0.82 0.010 1.000 1 2012 2012
dbSNP: rs718391
rs718391
1 1.000 0.080 1 25799343 upstream gene variant C/G snv 0.54 0.010 1.000 1 2012 2012
dbSNP: rs781230344
rs781230344
2 1.000 0.080 8 104014559 missense variant C/G snv 4.8E-05 0.010 1.000 1 2007 2007
dbSNP: rs1800471
rs1800471
48 0.597 0.840 19 41352971 missense variant C/G;T snv 5.6E-02 0.010 1.000 1 2017 2017
dbSNP: rs1800925
rs1800925
37 0.627 0.560 5 132657117 non coding transcript exon variant C/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs20417
rs20417
57 0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs759412116
rs759412116
55 0.581 0.640 19 45352210 missense variant C/G;T snv 4.0E-06; 6.0E-05 0.010 1.000 1 2010 2010
dbSNP: rs770507184
rs770507184
1 1.000 0.080 19 45370161 missense variant C/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2017 2017