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: rs1438673
rs1438673 		4 0.882 0.120 5 111131801 downstream gene variant C/T snv 0.61 0.700 1.000 1 2018 2018
dbSNP: rs1479430148
rs1479430148
VEGFA
1 1.000 0.120 6 43784861 3 prime UTR variant A/T snv 0.010 1.000 1 2019 2019
dbSNP: rs148505069
rs148505069 		2 1.000 0.120 4 122496409 intergenic variant A/G snv 0.29 0.700 1.000 1 2018 2018
dbSNP: rs1504215
rs1504215
BACH2 ; LOC105377891
1 1.000 0.120 6 90296508 5 prime UTR variant G/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs150589026
rs150589026
AOC1 ; LOC105375567
1 1.000 0.120 7 150860616 missense variant G/A;C snv 2.0E-05; 1.2E-05 0.010 1.000 1 2017 2017
dbSNP: rs1523643
rs1523643 		2 0.925 0.120 8 16931726 intergenic variant G/A;T snv 0.700 1.000 1 2014 2014
dbSNP: rs153109
rs153109
IL27
37 0.623 0.600 16 28507775 intron variant T/C snv 0.43 0.010 1.000 1 2014 2014
dbSNP: rs1600249
rs1600249
BLK
5 0.827 0.280 8 11502129 intron variant G/T snv 0.23 0.010 1.000 1 2017 2017
dbSNP: rs17133587
rs17133587
LOC105376375
1 1.000 0.120 10 4766883 intron variant G/A snv 0.19 0.700 1.000 1 2014 2014
dbSNP: rs17152484
rs17152484
LOC101927421 ; LINC02240
1 1.000 0.120 5 125252465 intron variant C/A;G snv 0.700 1.000 1 2014 2014
dbSNP: rs17294280
rs17294280
SMAD3
4 0.882 0.120 15 67175947 intron variant A/G snv 0.19 0.700 1.000 1 2018 2018
dbSNP: rs17513503
rs17513503 		3 0.882 0.120 5 110810746 intergenic variant C/A;G snv 0.700 1.000 1 2011 2011
dbSNP: rs17740607
rs17740607
HDC
2 0.925 0.160 15 50263347 missense variant G/A;C snv 8.5E-02; 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs17855750
rs17855750
IL27
21 0.695 0.480 16 28503907 missense variant A/C;T snv 6.4E-02; 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs1799964
rs1799964
LTA ; TNF ; LOC100287329
47 0.608 0.760 6 31574531 upstream gene variant T/C snv 0.19 0.010 1.000 1 2013 2013
dbSNP: rs1800471
rs1800471
TGFB1
48 0.597 0.840 19 41352971 missense variant C/G;T snv 5.6E-02 0.010 1.000 1 2016 2016
dbSNP: rs1800796
rs1800796
IL6 ; STEAP1B ; IL6-AS1
74 0.555 0.760 7 22726627 non coding transcript exon variant G/C snv 9.9E-02 0.010 1.000 1 2016 2016
dbSNP: rs1800797
rs1800797
IL6 ; STEAP1B ; IL6-AS1
43 0.605 0.800 7 22726602 non coding transcript exon variant A/G snv 0.72 0.010 1.000 1 2014 2014
dbSNP: rs1805015
rs1805015
IL4R
22 0.683 0.520 16 27362859 missense variant T/C snv 0.16 0.22 0.010 < 0.001 1 2014 2014
dbSNP: rs1887415
rs1887415
IFNGR1
3 0.882 0.160 6 137198101 missense variant A/G snv 5.1E-02 1.8E-02 0.010 1.000 1 2003 2003
dbSNP: rs1892280
rs1892280 		2 0.925 0.120 6 52192184 downstream gene variant A/G snv 0.60 0.010 1.000 1 2012 2012
dbSNP: rs1893361
rs1893361 		1 1.000 0.120 11 74688380 downstream gene variant G/A snv 0.20 0.700 1.000 1 2014 2014
dbSNP: rs2030519
rs2030519
LPP
7 0.827 0.200 3 188402113 intron variant G/A snv 0.61 0.700 1.000 1 2018 2018
dbSNP: rs204993
rs204993
PBX2
5 0.851 0.240 6 32187804 intron variant A/G snv 0.24 0.26 0.010 1.000 1 2016 2016
dbSNP: rs2061
rs2061 		1 1.000 0.120 17 15157487 regulatory region variant C/A;T snv 2.8E-04 0.700 1.000 1 2014 2014