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: rs17881320
rs17881320
STAT3
1 1.000 0.120 17 42333221 intron variant G/A;T snv 6.0E-02 0.700 1.000 1 2015 2015
dbSNP: rs4572450
rs4572450
ZNF652
4 0.882 0.120 17 49343367 intron variant T/C snv 0.78 0.010 1.000 1 2018 2018
dbSNP: rs878906
rs878906
NAT9
2 0.925 0.120 17 74773195 non coding transcript exon variant T/C snv 0.51 0.010 1.000 1 2006 2006
dbSNP: rs895691
rs895691
NAT9
2 0.925 0.120 17 74770161 downstream gene variant C/A;T snv 0.010 1.000 1 2006 2006
dbSNP: rs9302874
rs9302874 		2 0.925 0.120 17 78284479 intergenic variant C/T snv 0.24 0.700 1.000 1 2015 2015
dbSNP: rs555743307
rs555743307
IL4R
20 0.695 0.440 16 27342243 missense variant G/A;T snv 3.6E-05; 2.9E-04 0.040 0.750 4 2002 2016
dbSNP: rs1801275
rs1801275
IL4R
58 0.581 0.680 16 27363079 missense variant A/G snv 0.25 0.36 0.020 0.500 2 2001 2014
dbSNP: rs1805011
rs1805011
IL4R
8 0.776 0.320 16 27362551 missense variant A/C;G;T snv 0.13; 1.2E-04; 3.6E-05 0.020 1.000 2 2001 2016
dbSNP: rs2041733
rs2041733
CLEC16A ; LOC105371081
1 1.000 0.120 16 11135732 intron variant T/C;G snv 0.700 1.000 1 2015 2015
dbSNP: rs1555525115
rs1555525115
ANKRD11
5 0.851 0.360 16 89279567 frameshift variant GGCTTCGG/- delins 0.700 0
dbSNP: rs1528473
rs1528473 		2 0.925 0.120 15 55094545 downstream gene variant A/G snv 7.6E-02 0.700 1.000 1 2015 2015
dbSNP: rs1665050
rs1665050
RNF111
1 1.000 0.120 15 59001406 intron variant A/G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs28665122
rs28665122
SELENOS
7 0.807 0.240 15 101277522 upstream gene variant C/T snv 0.24 0.010 1.000 1 2011 2011
dbSNP: rs1800875
rs1800875
CMA1
12 0.742 0.360 14 24510132 upstream gene variant C/T snv 0.41 0.010 1.000 1 2005 2005
dbSNP: rs2143950
rs2143950
PPP2R3C ; FAM177A1 ; LOC101927178
1 1.000 0.120 14 35103151 intron variant C/T snv 0.17 0.700 1.000 1 2015 2015
dbSNP: rs4982958
rs4982958 		4 0.851 0.200 14 24518659 intergenic variant C/T snv 0.50 0.010 1.000 1 2012 2012
dbSNP: rs712484
rs712484 		3 0.882 0.160 14 48081576 intergenic variant C/A snv 0.14 0.010 < 0.001 1 2012 2012
dbSNP: rs941505
rs941505
TGM1
2 0.925 0.120 14 24264066 5 prime UTR variant T/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs976078
rs976078 		4 0.882 0.120 13 82963398 intron variant A/C snv 0.15 0.010 1.000 1 2018 2018
dbSNP: rs1544410
rs1544410
VDR
78 0.542 0.760 12 47846052 intron variant C/A;G;T snv 0.020 1.000 2 2016 2020
dbSNP: rs324011
rs324011
STAT6
12 0.742 0.360 12 57108399 intron variant C/T snv 0.32 0.020 1.000 2 2013 2015
dbSNP: rs731236
rs731236
VDR
81 0.542 0.760 12 47844974 synonymous variant A/G snv 0.33 0.34 0.020 1.000 2 2013 2020
dbSNP: rs167769
rs167769
STAT6
5 0.827 0.280 12 57109992 5 prime UTR variant C/T snv 0.31 0.010 1.000 1 2015 2015
dbSNP: rs2228570
rs2228570
VDR
99 0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 0.010 < 0.001 1 2013 2013
dbSNP: rs993226
rs993226
LOC105369875
4 0.851 0.160 12 84492794 intergenic variant T/G snv 6.3E-02 0.700 1.000 1 2015 2015