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: rs486907
rs486907
RNASEL
32 0.667 0.360 1 182585422 missense variant C/T snv 0.31 0.28 0.010 1.000 1 2006 2006
dbSNP: rs179363879
rs179363879
AIRE
3 0.925 0.160 21 44286092 missense variant T/C snv 0.010 1.000 1 2007 2007
dbSNP: rs179008
rs179008
TLR7
14 0.763 0.360 X 12885540 missense variant A/C;T snv 0.18 0.18 0.010 1.000 1 2010 2010
dbSNP: rs1480480967
rs1480480967
IFNA13
2 1.000 0.080 9 21367884 missense variant C/T snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs1800477
rs1800477
BCL2
12 0.763 0.480 18 63318540 missense variant C/T snv 1.8E-02 4.9E-03 0.010 1.000 1 2011 2011
dbSNP: rs4986790
rs4986790
TLR4
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs4986791
rs4986791
TLR4
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.010 1.000 1 2011 2011
dbSNP: rs3775291
rs3775291
TLR3
51 0.602 0.640 4 186082920 missense variant C/G;T snv 1.2E-04; 0.28 0.010 1.000 1 2012 2012
dbSNP: rs738409
rs738409
PNPLA3
88 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.010 1.000 1 2012 2012
dbSNP: rs17886084
rs17886084
MMP1 ; WTAPP1
2 1.000 0.080 11 102799765 intron variant C/- delins 0.010 1.000 1 2013 2013
dbSNP: rs1799889
rs1799889
SERPINE1
31 0.649 0.600 7 101126430 upstream gene variant A/G snv 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 2013 2013
dbSNP: rs35068180
rs35068180
MMP3
5 0.851 0.040 11 102845217 upstream gene variant A/-;AA delins 0.010 1.000 1 2013 2013
dbSNP: rs3789679
rs3789679
AGT
4 0.925 0.120 1 230713948 intron variant G/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs4553808
rs4553808
CTLA4
28 0.672 0.320 2 203866282 upstream gene variant A/G;T snv 0.16 0.010 1.000 1 2013 2013
dbSNP: rs8099917
rs8099917 		60 0.581 0.600 19 39252525 upstream gene variant T/G snv 0.16 0.010 1.000 1 2013 2013
dbSNP: rs4804803
rs4804803
CD209
15 0.732 0.360 19 7747847 upstream gene variant A/G snv 0.26 0.020 1.000 2 2012 2014
dbSNP: rs12487066
rs12487066
LOC105374027
2 1.000 0.080 3 106193283 intron variant T/C snv 0.28 0.010 1.000 1 2014 2014
dbSNP: rs1336795098
rs1336795098
NUP214
1 9 131127544 synonymous variant A/G snv 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs16944
rs16944
IL1B
92 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 0.010 1.000 1 2015 2015
dbSNP: rs1818879
rs1818879 		7 0.827 0.120 7 22733108 downstream gene variant G/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs3136558
rs3136558
IL1B
4 1.000 2 112833698 intron variant A/G snv 0.21 0.010 1.000 1 2015 2015
dbSNP: rs397516808
rs397516808
PTPN11
1 12 112446327 synonymous variant A/G snv 1.6E-05 1.4E-05 0.010 1.000 1 2015 2015
dbSNP: rs781522558
rs781522558
STAT2
2 1.000 12 56346844 stop gained G/C;T snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs10814325
rs10814325
RECK
7 0.827 0.200 9 36036597 upstream gene variant T/A;C;G snv 0.010 1.000 1 2016 2016