Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1799768
SERPINE1
0.807 0.360 7 101126425 upstream gene variant -/A;C ins 6
rs11412402
EEFSEC
0.925 0.080 3 128194003 intron variant -/T ins 0.65 2
rs113612868
TCAP
1.000 0.080 17 39665182 upstream gene variant -/T ins 1
rs71266076 1.000 0.080 8 80354702 intron variant -/C;TGAGACA ins 1.4E-05 1
rs1554317002
LOC112267983 ; CDK13
0.724 0.440 7 39950821 frameshift variant C/- delins 45
rs2066847
NOD2
0.716 0.400 16 50729868 frameshift variant C/-;CC delins 1.5E-02 18
rs80359473
BRCA2
0.807 0.400 13 32339288 frameshift variant GAAA/- delins 12
rs796051881
PEX5
0.807 0.440 12 7202274 frameshift variant -/A delins 9
rs5743293
NOD2
0.807 0.200 16 50729868 frameshift variant C/-;CC delins 7
rs10667251 0.925 0.080 17 49388381 intron variant -/TCT delins 0.47 4
rs59439148
ALOX5
0.925 0.160 10 45374100 upstream gene variant GGGGGCGGGGGCGGGGGCGGGGGC/-;GGGGGC;GGGGGCGGGGGC;GGGGGCGGGGGCGGGGGC;GGGGGCGGGGGCGGGGGCGGGGGCGGGGGC;GGGGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGGGC;GGGGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGGGC delins 0.16 4
rs71802646
STAT6
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 3
rs869312169
DOCK8
0.925 0.080 9 452067 frameshift variant -/T delins 3
rs10699671
NDFIP1
0.925 0.080 5 142139375 intron variant -/AGG delins 0.68 2
rs113092121
KIF11
0.925 0.080 10 92624756 intron variant -/CTCT delins 2
rs140522418
LOC107984408
0.925 0.080 11 128302942 intergenic variant A/-;AA delins 2
rs149317277
ITGB8
0.925 0.080 7 20384300 intron variant -/GAAACAAGATTCT;GAACCAAGATTCT delins 0.36 2
rs34445740
SMAD3
0.925 0.080 15 67183426 intron variant -/A delins 0.29 2
rs35204956 0.925 0.080 8 80389778 intron variant A/-;AA;AAA delins 2
rs367983479
BACH2
1.000 0.080 6 90291614 intron variant AAAA/-;AA;AAA;AAAAA delins 0.32 2
rs3831317
CHIT1
0.925 0.080 1 203217822 stop gained -/AGACCATGGCCCCGCCCAGTCCCT delins 2
rs540485182 0.925 0.080 5 110825774 intergenic variant -/A;AA;AAA delins 2
rs540973741
NOD2
0.925 0.120 16 50729868 frameshift variant C/-;CC delins 2
rs16659
RCBTB1
1.000 0.080 13 49533071 3 prime UTR variant GAAAGATGATAAAGT/-;GAAAGATGATAAAGTGAAAGATGATAAAGT delins 1
rs17525488
LTA4H
1.000 0.080 12 96035660 intron variant T/- delins 1