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: rs10011025
rs10011025
GLRA3
1 1.000 0.120 4 174733072 intron variant A/C;G snv 0.010 1.000 1 2018 2018
dbSNP: rs10770141
rs10770141
TH ; MIR4686
2 1.000 0.120 11 2172610 upstream gene variant A/C;G snv 0.700 1.000 1 2007 2007
dbSNP: rs12720356
rs12720356
TYK2
12 0.752 0.360 19 10359299 missense variant A/C;G snv 6.1E-02; 4.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs1801274
rs1801274
FCGR2A
46 0.597 0.800 1 161509955 missense variant A/C;G snv 4.0E-06; 0.48 0.010 1.000 1 2010 2010
dbSNP: rs1805070
rs1805070
WFS1
1 1.000 0.120 4 6301953 missense variant A/C;G snv 1.4E-04; 7.3E-03 0.010 1.000 1 2000 2000
dbSNP: rs1893592
rs1893592
UBASH3A
12 0.742 0.280 21 42434957 missense variant A/C;G snv 0.27; 8.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs1950942
rs1950942 		1 1.000 0.120 14 105861856 upstream gene variant A/C;G snv 0.010 1.000 1 2017 2017
dbSNP: rs2286899
rs2286899
GIMAP5 ; GIMAP1-GIMAP5
1 1.000 0.120 7 150743626 3 prime UTR variant A/C;G snv 0.010 1.000 1 2015 2015
dbSNP: rs241425
rs241425
TAP2
2 0.925 0.160 6 32837132 intron variant A/C;G snv 0.700 1.000 1 2007 2007
dbSNP: rs3957148
rs3957148 		4 0.925 0.160 6 32714360 upstream gene variant A/C;G snv 0.10 0.700 1.000 1 2007 2007
dbSNP: rs7679475
rs7679475
LOC107986309
2 0.925 0.120 4 121392885 intergenic variant A/C;G snv 0.700 1.000 1 2015 2015
dbSNP: rs8878
rs8878
ART3 ; CXCL10
5 0.827 0.280 4 76021147 3 prime UTR variant A/C;G snv 0.010 1.000 1 2009 2009
dbSNP: rs1307997067
rs1307997067
TAX1BP3 ; P2RX5-TAX1BP3
7 0.851 0.320 17 3664199 missense variant A/C;G snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs854560
rs854560
PON1
113 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 0.020 1.000 2 2008 2017
dbSNP: rs10735810
rs10735810
VDR
26 0.662 0.640 12 47879112 start lost A/C;G;T snv 0.050 1.000 5 2008 2015
dbSNP: rs2228570
rs2228570
VDR
99 0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 0.030 1.000 3 2012 2019
dbSNP: rs11145763
rs11145763
CARD9
14 0.724 0.240 9 136369144 intron variant A/C;G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs1131580
rs1131580
TNFSF10
4 0.882 0.160 3 172505830 3 prime UTR variant A/C;G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs1800783
rs1800783
NOS3
7 0.827 0.280 7 150992309 intron variant A/C;G;T snv 0.010 1.000 1 2010 2010
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 0.010 1.000 1 2009 2009
dbSNP: rs3134603
rs3134603
PPT2 ; PPT2-EGFL8
4 0.851 0.360 6 32158225 non coding transcript exon variant A/C;G;T snv 0.700 1.000 1 2007 2007
dbSNP: rs2228145
rs2228145
IL6R
57 0.602 0.720 1 154454494 missense variant A/C;T snv 0.38; 1.2E-05 0.020 1.000 2 2012 2013
dbSNP: rs3094061
rs3094061 		2 0.925 0.160 6 30353412 downstream gene variant A/C;T snv 0.700 1.000 1 2007 2007
dbSNP: rs3094682
rs3094682
HLA-B ; LINC02571 ; LOC112267902
1 1.000 0.120 6 31296684 intron variant A/C;T snv 0.700 1.000 1 2007 2007
dbSNP: rs539514
rs539514
LMO7
1 1.000 0.120 13 75752146 intron variant A/C;T snv 0.800 1.000 1 2011 2011