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: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.090 0.889 9 2005 2015
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.030 1.000 3 2005 2018
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 1.000 2 2005 2010
dbSNP: rs4986790
rs4986790
TLR4
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.020 0.500 2 2005 2015
dbSNP: rs4986791
rs4986791
TLR4
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.020 1.000 2 2005 2015
dbSNP: rs237025
rs237025
TAB2 ; SUMO4
26 0.672 0.360 6 149400554 missense variant G/A snv 0.55 0.57 0.010 < 0.001 1 2005 2005
dbSNP: rs231775
rs231775
CTLA4
115 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.010 < 0.001 1 2008 2008
dbSNP: rs2395148
rs2395148
TSBP1 ; TSBP1-AS1
3 0.882 0.200 6 32353777 intron variant G/T snv 4.6E-02 0.800 1.000 1 2008 2008
dbSNP: rs1042713
rs1042713
ADRB2
63 0.576 0.800 5 148826877 missense variant G/A snv 0.42 0.43 0.010 1.000 1 2009 2009
dbSNP: rs1042714
rs1042714
ADRB2
54 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 0.010 1.000 1 2009 2009
dbSNP: rs10499194
rs10499194 		10 0.752 0.400 6 137681500 intron variant C/T snv 0.24 0.010 1.000 1 2009 2009
dbSNP: rs12046117
rs12046117
VTCN1
1 1.000 0.120 1 117208743 intron variant C/T snv 0.16 0.800 1.000 1 2009 2009
dbSNP: rs2104286
rs2104286
IL2RA
25 0.662 0.440 10 6057082 intron variant T/C snv 0.18 0.010 1.000 1 2009 2009
dbSNP: rs41295061
rs41295061 		8 0.790 0.360 10 6072697 upstream gene variant C/A snv 6.1E-02 0.010 1.000 1 2009 2009
dbSNP: rs6920220
rs6920220 		14 0.742 0.440 6 137685367 intron variant G/A snv 0.16 0.010 1.000 1 2009 2009
dbSNP: rs12708716
rs12708716
CLEC16A
7 0.807 0.320 16 11086016 intron variant A/G snv 0.37 0.010 1.000 1 2010 2010
dbSNP: rs12917716
rs12917716
CLEC16A
4 0.851 0.200 16 11095291 intron variant G/C snv 0.51 0.010 1.000 1 2010 2010
dbSNP: rs1464510
rs1464510
LPP
9 0.807 0.280 3 188394766 intron variant C/A;T snv 0.010 1.000 1 2010 2010
dbSNP: rs6498169
rs6498169
CLEC16A
6 0.807 0.280 16 11155472 non coding transcript exon variant G/A snv 0.66 0.010 1.000 1 2010 2010
dbSNP: rs653178
rs653178
ATXN2
41 0.672 0.600 12 111569952 intron variant C/T snv 0.67 0.010 1.000 1 2010 2010
dbSNP: rs30187
rs30187
ERAP1
14 0.732 0.360 5 96788627 missense variant T/A;C snv 0.62 0.020 1.000 2 2011 2017
dbSNP: rs11209026
rs11209026
IL23R
46 0.597 0.680 1 67240275 missense variant G/A snv 4.2E-02 4.6E-02 0.010 1.000 1 2011 2011
dbSNP: rs1051266
rs1051266
SLC19A1
41 0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06 0.010 1.000 1 2012 2012
dbSNP: rs10761744
rs10761744
JMJD1C
1 1.000 0.120 10 63341266 intron variant C/G;T snv 0.87 0.700 1.000 1 2012 2012
dbSNP: rs10761745
rs10761745
JMJD1C
3 0.882 0.240 10 63341311 intron variant G/C snv 0.87 0.700 1.000 1 2012 2012