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: rs2269241
rs2269241
PGM1
2 1.000 0.120 1 63643100 intron variant T/C snv 0.23 0.800 1.000 1 2009 2009
dbSNP: rs2358994
rs2358994
BCL2L15 ; AP4B1-AS1
2 0.925 0.120 1 113886839 intron variant G/A snv 0.16 0.700 1.000 1 2015 2015
dbSNP: rs2488457
rs2488457
PTPN22 ; AP4B1-AS1
11 0.763 0.480 1 113872746 intron variant G/A;C snv 0.010 1.000 1 2007 2007
dbSNP: rs2746071
rs2746071
RGS2
4 0.882 0.160 1 192808434 intron variant A/G snv 0.35 0.010 1.000 1 2014 2014
dbSNP: rs2949655
rs2949655
CD247
1 1.000 0.120 1 167482613 intron variant G/A snv 0.39 0.010 1.000 1 2015 2015
dbSNP: rs3024493
rs3024493
IL10 ; IL19
9 0.776 0.280 1 206770623 intron variant C/A;T snv 0.11 0.700 1.000 1 2011 2011
dbSNP: rs34884278
rs34884278 		14 0.724 0.240 1 172869708 intron variant C/T snv 0.63 0.700 1.000 1 2015 2015
dbSNP: rs35829419
rs35829419
NLRP3
23 0.689 0.560 1 247425556 missense variant C/A snv 3.9E-02 3.3E-02 0.010 < 0.001 1 2019 2019
dbSNP: rs3789604
rs3789604
RSBN1 ; AP4B1-AS1
9 0.776 0.360 1 113812320 synonymous variant T/A;C;G snv 8.5E-06; 1.3E-05; 0.17 0.010 < 0.001 1 2010 2010
dbSNP: rs3820589
rs3820589
SLC2A1 ; SLC2A1-AS1
2 0.925 0.200 1 42960373 intron variant A/T snv 8.3E-02 0.010 1.000 1 2015 2015
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2006 2006
dbSNP: rs4762
rs4762
AGT
35 0.637 0.440 1 230710231 missense variant G/A snv 0.12 0.11 0.010 1.000 1 1996 1996
dbSNP: rs55705316
rs55705316 		14 0.724 0.240 1 206760172 regulatory region variant T/A;G snv 0.700 1.000 1 2015 2015
dbSNP: rs56048322
rs56048322
PTPN22 ; AP4B1-AS1
1 1.000 0.120 1 113829592 missense variant C/G snv 5.8E-03 5.9E-03 0.010 1.000 1 2016 2016
dbSNP: rs6689858
rs6689858
CRB1
14 0.724 0.240 1 197406337 intron variant T/C snv 0.39 0.700 1.000 1 2015 2015
dbSNP: rs6691977
rs6691977
CAMSAP2
1 1.000 0.120 1 200845831 intron variant T/C snv 0.32 0.700 1.000 1 2015 2015
dbSNP: rs672797
rs672797 		1 1.000 0.120 1 81094869 downstream gene variant C/A;T snv 0.63 0.700 1.000 1 2007 2007
dbSNP: rs7528684
rs7528684
FCRL3
13 0.752 0.560 1 157701026 upstream gene variant A/G snv 0.57 0.700 1.000 1 2011 2011
dbSNP: rs7533564
rs7533564
PTGFR ; MGC27382
4 0.925 0.120 1 78360228 intron variant C/T snv 0.92 0.700 1.000 1 2016 2016
dbSNP: rs763110
rs763110
FASLG
30 0.653 0.560 1 172658358 upstream gene variant C/T snv 0.49 0.010 1.000 1 2018 2018
dbSNP: rs1990760
rs1990760
IFIH1
33 0.672 0.480 2 162267541 missense variant C/T snv 0.50 0.45 0.900 0.955 22 2007 2018
dbSNP: rs231775
rs231775
CTLA4
115 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.100 0.875 16 1998 2019
dbSNP: rs3087243
rs3087243
CTLA4
44 0.623 0.720 2 203874196 downstream gene variant G/A snv 0.37 0.860 0.800 10 2007 2019
dbSNP: rs1801262
rs1801262
NEUROD1 ; CERKL
4 0.882 0.120 2 181678728 missense variant T/C snv 0.70 0.68 0.090 0.778 9 1999 2005
dbSNP: rs7574865
rs7574865
STAT4
59 0.574 0.720 2 191099907 intron variant T/G snv 0.79 0.070 0.571 7 2008 2015