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: rs1128535
rs1128535
TRAIP
2 0.925 0.040 3 49828959 3 prime UTR variant C/A;T snv 0.48 0.010 1.000 1 2008 2008
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs11362
rs11362
DEFB1
13 0.742 0.360 8 6877877 5 prime UTR variant C/T snv 0.43 0.40 0.010 1.000 1 2015 2015
dbSNP: rs1142345
rs1142345
TPMT
9 0.776 0.280 6 18130687 missense variant T/C;G snv 3.7E-02 0.010 1.000 1 2006 2006
dbSNP: rs11554495
rs11554495
KRT8
19 0.701 0.240 12 52904798 missense variant C/A snv 4.9E-03 5.4E-03 0.010 1.000 1 2004 2004
dbSNP: rs11564245
rs11564245
MUC19 ; LOC105369736
1 1.000 0.040 12 40429552 non coding transcript exon variant G/C snv 0.10 9.6E-02 0.010 1.000 1 2013 2013
dbSNP: rs11575982
rs11575982
CD40LG
2 0.925 0.080 X 136659171 missense variant G/A;C snv 1.8E-03; 9.3E-05 0.010 1.000 1 2017 2017
dbSNP: rs11596008
rs11596008
LINC01475
2 0.925 0.040 10 99527557 intron variant C/T snv 0.29 0.010 1.000 1 2011 2011
dbSNP: rs1159782
rs1159782
JAK2 ; INSL6
1 1.000 0.040 9 5078117 intron variant T/C snv 0.23 0.010 1.000 1 2018 2018
dbSNP: rs1164509546
rs1164509546
ARHGEF7
1 1.000 0.040 13 111286234 missense variant C/T snv 4.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs11739135
rs11739135 		2 1.000 0.040 5 132397705 downstream gene variant G/C snv 0.27 0.010 1.000 1 2012 2012
dbSNP: rs11825977
rs11825977
MUC2
2 0.925 0.040 11 1075920 splice region variant G/A snv 0.18 0.20 0.010 1.000 1 2006 2006
dbSNP: rs1183194405
rs1183194405
F2
19 0.716 0.440 11 46719773 missense variant G/A;T snv 4.5E-06; 4.5E-06 0.010 1.000 1 2002 2002
dbSNP: rs1191926239
rs1191926239
TLR4
7 0.807 0.200 9 117704539 missense variant C/G snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs11938795
rs11938795
KIAA1109
3 0.882 0.120 4 122151854 upstream gene variant T/C snv 0.24 0.010 1.000 1 2009 2009
dbSNP: rs1199323686
rs1199323686
NOD2
2 0.925 0.040 16 50716670 frameshift variant C/- del 0.010 1.000 1 2006 2006
dbSNP: rs1200332
rs1200332 		1 1.000 0.040 14 34897929 intergenic variant T/C snv 0.67 0.010 1.000 1 2014 2014
dbSNP: rs12014762
rs12014762
MORC4
3 0.882 0.080 X 106940440 intron variant C/T snv 0.14 0.010 1.000 1 2013 2013
dbSNP: rs1202184
rs1202184
ABCB1
7 0.851 0.120 7 87584585 intron variant C/T snv 0.39 0.010 1.000 1 2009 2009
dbSNP: rs1202186
rs1202186
ABCB1
1 1.000 0.040 7 87583942 intron variant C/T snv 0.69 0.010 1.000 1 2009 2009
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2017 2017
dbSNP: rs12343867
rs12343867
JAK2 ; INSL6
9 0.790 0.200 9 5074189 intron variant T/C snv 0.25 0.010 1.000 1 2018 2018
dbSNP: rs12377632
rs12377632
TLR4
5 0.827 0.120 9 117710452 intron variant T/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs1237770118
rs1237770118
SUMF2
1 1.000 0.040 7 56078399 missense variant A/G snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs1239681664
rs1239681664
ABCA1
15 0.716 0.320 9 104818690 synonymous variant A/G snv 7.0E-06 0.010 1.000 1 2007 2007