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: rs1223438908
rs1223438908
CBLB
2 1.000 0.120 3 105681480 missense variant T/G snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs1252641479
rs1252641479
ARHGEF7
2 1.000 0.040 13 111300800 missense variant T/G snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs12992492
rs12992492 		2 1.000 0.040 2 203836831 intergenic variant A/G snv 0.40 0.010 1.000 1 2011 2011
dbSNP: rs1355208
rs1355208 		2 2 30222456 intergenic variant A/G snv 0.65 0.700 1.000 1 2011 2011
dbSNP: rs140101069
rs140101069
GLIS3
2 1.000 0.120 9 3828342 missense variant G/A snv 3.2E-04 8.4E-05 0.010 1.000 1 2013 2013
dbSNP: rs140490
rs140490
UBE2L3
2 1.000 0.080 22 21567397 intron variant G/A;C;T snv 0.010 1.000 1 2015 2015
dbSNP: rs1425186769
rs1425186769
P2RX2
2 1.000 0.120 12 132620303 missense variant C/T snv 4.4E-05 3.5E-05 0.010 1.000 1 2015 2015
dbSNP: rs1467199
rs1467199
STAT1
2 1.000 0.120 2 191015776 intron variant C/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs148038936
rs148038936
ITGB2 ; LOC107987303
2 1.000 0.080 21 44910354 missense variant G/A;C snv 2.4E-05; 1.6E-04 0.010 1.000 1 2004 2004
dbSNP: rs1483068801
rs1483068801
P2RX6
2 1.000 0.120 22 21025861 missense variant T/C snv 1.1E-05 0.010 1.000 1 2015 2015
dbSNP: rs1517440
rs1517440
LOC105373895
2 1.000 0.080 2 220589153 intron variant T/C;G snv 0.010 < 0.001 1 2012 2012
dbSNP: rs17066096
rs17066096 		2 1.000 0.080 6 137131771 intergenic variant A/G snv 0.20 0.010 1.000 1 2014 2014
dbSNP: rs17612648
rs17612648
PTPRC
2 1.000 0.040 1 198696788 synonymous variant C/G;T snv 8.8E-03; 8.0E-05 0.010 1.000 1 2010 2010
dbSNP: rs1772408
rs1772408
IFI16
2 1 159035859 intron variant A/G;T snv 0.800 1.000 1 2011 2011
dbSNP: rs17758761
rs17758761
ANKFN1
2 1.000 0.080 17 55977164 intron variant A/C snv 4.1E-02 0.010 < 0.001 1 2012 2012
dbSNP: rs1876518
rs1876518
SPRED2
2 2 65381775 intron variant C/T snv 0.45 0.800 1.000 1 2011 2011
dbSNP: rs200395694
rs200395694
MEF2D
2 1.000 0.080 1 156480799 intron variant G/A;C;T snv 2.7E-05; 1.2E-04; 1.6E-03 0.010 1.000 1 2019 2019
dbSNP: rs201909740
rs201909740
CD28
2 1.000 0.040 2 203734889 missense variant G/A snv 4.0E-06 1.4E-05 0.010 1.000 1 2019 2019
dbSNP: rs2108225
rs2108225 		2 1.000 0.040 7 107812658 downstream gene variant G/A;T snv 0.010 1.000 1 2009 2009
dbSNP: rs2155433
rs2155433 		2 11 118742212 intron variant G/A snv 0.24 0.700 1.000 1 2011 2011
dbSNP: rs2305035
rs2305035
CBLB
2 1.000 0.080 3 105720182 synonymous variant G/A snv 0.22 0.21 0.010 1.000 1 2005 2005
dbSNP: rs2737713
rs2737713
LGALS8 ; LOC107985367
2 1.000 0.120 1 236537507 missense variant T/A snv 0.010 1.000 1 2012 2012
dbSNP: rs2780814
rs2780814
RAVER2
2 1.000 0.040 1 64827272 intron variant C/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs2893008
rs2893008
IL21-AS1
2 4 122631659 intron variant A/G snv 5.1E-02 0.700 1.000 1 2011 2011
dbSNP: rs305217
rs305217
PKN2
2 1.000 0.080 1 88754789 intron variant G/A snv 8.6E-02 0.010 < 0.001 1 2012 2012