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: rs113612868
rs113612868
TCAP
1 1.000 0.080 17 39665182 upstream gene variant -/T ins 0.700 1.000 1 2010 2010
dbSNP: rs11412402
rs11412402
EEFSEC
2 0.925 0.080 3 128194003 intron variant -/T ins 0.65 0.700 1.000 1 2019 2019
dbSNP: rs1799768
rs1799768
SERPINE1
6 0.807 0.360 7 101126425 upstream gene variant -/A;C ins 0.010 1.000 1 2019 2019
dbSNP: rs71266076
rs71266076 		1 1.000 0.080 8 80354702 intron variant -/C;TGAGACA ins 1.4E-05 0.700 1.000 1 2019 2019
dbSNP: rs10667251
rs10667251 		4 0.925 0.080 17 49388381 intron variant -/TCT delins 0.47 0.700 1.000 1 2019 2019
dbSNP: rs10699671
rs10699671
NDFIP1
2 0.925 0.080 5 142139375 intron variant -/AGG delins 0.68 0.700 1.000 1 2019 2019
dbSNP: rs113092121
rs113092121
KIF11
2 0.925 0.080 10 92624756 intron variant -/CTCT delins 0.700 1.000 1 2019 2019
dbSNP: rs140522418
rs140522418
LOC107984408
2 0.925 0.080 11 128302942 intergenic variant A/-;AA delins 0.700 1.000 1 2019 2019
dbSNP: rs149317277
rs149317277
ITGB8
2 0.925 0.080 7 20384300 intron variant -/GAAACAAGATTCT;GAACCAAGATTCT delins 0.36 0.700 1.000 1 2019 2019
dbSNP: rs16659
rs16659
RCBTB1
1 1.000 0.080 13 49533071 3 prime UTR variant GAAAGATGATAAAGT/-;GAAAGATGATAAAGTGAAAGATGATAAAGT delins 0.010 1.000 1 2010 2010
dbSNP: rs17525488
rs17525488
LTA4H
1 1.000 0.080 12 96035660 intron variant T/- delins 0.010 1.000 1 2010 2010
dbSNP: rs200634877
rs200634877
NDFIP1
1 1.000 0.080 5 142150197 intron variant AAATA/-;AAATAAAATA delins 0.700 1.000 1 2016 2016
dbSNP: rs202011557
rs202011557 		1 1.000 0.080 2 102297182 intergenic variant -/CAA delins 0.700 1.000 1 2016 2016
dbSNP: rs2066847
rs2066847
NOD2
18 0.716 0.400 16 50729868 frameshift variant C/-;CC delins 1.5E-02 0.700 1.000 1 2011 2011
dbSNP: rs34445740
rs34445740
SMAD3
2 0.925 0.080 15 67183426 intron variant -/A delins 0.29 0.700 1.000 1 2019 2019
dbSNP: rs35204956
rs35204956 		2 0.925 0.080 8 80389778 intron variant A/-;AA;AAA delins 0.700 1.000 1 2019 2019
dbSNP: rs367983479
rs367983479
BACH2
2 1.000 0.080 6 90291614 intron variant AAAA/-;AA;AAA;AAAAA delins 0.32 0.700 1.000 1 2019 2019
dbSNP: rs3831317
rs3831317
CHIT1
2 0.925 0.080 1 203217822 stop gained -/AGACCATGGCCCCGCCCAGTCCCT delins 0.010 1.000 1 2016 2016
dbSNP: rs386770867
rs386770867
CAB39L ; SETDB2 ; SETDB2-PHF11
1 1.000 0.080 13 49444705 5 prime UTR variant AT/G delins 0.010 1.000 1 2015 2015
dbSNP: rs540485182
rs540485182 		2 0.925 0.080 5 110825774 intergenic variant -/A;AA;AAA delins 0.700 1.000 1 2019 2019
dbSNP: rs540973741
rs540973741
NOD2
2 0.925 0.120 16 50729868 frameshift variant C/-;CC delins 0.700 1.000 1 2011 2011
dbSNP: rs560026225
rs560026225 		1 1.000 0.080 4 122134546 intergenic variant -/AT delins 1.3E-02 0.700 1.000 1 2019 2019
dbSNP: rs5743293
rs5743293
NOD2
7 0.807 0.200 16 50729868 frameshift variant C/-;CC delins 0.700 1.000 1 2011 2011
dbSNP: rs59439148
rs59439148
ALOX5
4 0.925 0.160 10 45374100 upstream gene variant GGGGGCGGGGGCGGGGGCGGGGGC/-;GGGGGC;GGGGGCGGGGGC;GGGGGCGGGGGCGGGGGC;GGGGGCGGGGGCGGGGGCGGGGGCGGGGGC;GGGGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGGGC;GGGGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGGGC delins 0.16 0.010 1.000 1 2013 2013
dbSNP: rs71802646
rs71802646
STAT6
3 0.882 0.080 12 57111290 5 prime UTR variant ACACACACACACACAC/-;AC;ACAC;ACACAC;ACACACAC;ACACACACAC;ACACACACACAC;ACACACACACACAC;ACACACACACACACACAC;ACACACACACACACACACAC;ACACACACACACACACACACAC;ACACACACACACACACACACACAC;ACACACACACACACACACACACACAC delins 0.32 0.010 1.000 1 2014 2014