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: rs5743708
rs5743708
TLR2
98 0.525 0.800 4 153705165 missense variant G/A snv 1.7E-02 1.8E-02 0.020 < 0.001 2 2012 2017
dbSNP: rs121917864
rs121917864
TLR2
31 0.645 0.520 4 153704936 missense variant C/T snv 8.8E-05 9.8E-05 0.010 < 0.001 1 2012 2012
dbSNP: rs16910526
rs16910526
CLEC7A ; LOC105369655
12 0.742 0.280 12 10118488 stop gained A/C;G snv 6.2E-02 0.010 < 0.001 1 2009 2009
dbSNP: rs1801275
rs1801275
IL4R
58 0.581 0.680 16 27363079 missense variant A/G snv 0.25 0.36 0.010 < 0.001 1 2001 2001
dbSNP: rs2034498
rs2034498
SCLT1
1 4 128971750 non coding transcript exon variant C/A;G;T snv 0.010 < 0.001 1 2017 2017
dbSNP: rs2228226
rs2228226
GLI1 ; ARHGAP9
6 0.851 0.160 12 57472038 missense variant G/C snv 0.60 0.68 0.010 < 0.001 1 2010 2010
dbSNP: rs2254958
rs2254958
EIF2AK2
4 0.882 0.120 2 37149148 5 prime UTR variant G/A snv 0.34 0.010 < 0.001 1 2015 2015
dbSNP: rs272879
rs272879
SLC22A4 ; MIR3936HG
4 0.882 0.040 5 132334853 synonymous variant C/A;G;T snv 4.0E-06; 0.57 0.010 < 0.001 1 2010 2010
dbSNP: rs304496
rs304496
LIPA
1 10 89387005 intron variant A/G snv 0.96 0.010 < 0.001 1 2017 2017
dbSNP: rs34688635
rs34688635
NOX1
1 X 100850206 missense variant C/T snv 1.9E-02 2.0E-02 0.010 < 0.001 1 2018 2018
dbSNP: rs376377228
rs376377228
IL23R ; C1orf141
3 0.925 0.040 1 67182950 missense variant A/G snv 1.6E-05 2.1E-05 0.010 < 0.001 1 2008 2008
dbSNP: rs41313262
rs41313262
IL23R
3 0.925 0.040 1 67240217 missense variant G/A;T snv 1.1E-02 1.0E-02 0.010 < 0.001 1 2016 2016
dbSNP: rs4959235
rs4959235
SLC22A23
2 1.000 0.120 6 3359103 intron variant T/C snv 0.95 0.010 < 0.001 1 2014 2014
dbSNP: rs56149945
rs56149945
NR3C1
49 0.595 0.680 5 143399752 missense variant T/A;C snv 2.0E-02 0.010 < 0.001 1 2012 2012
dbSNP: rs57749775
rs57749775
KRT8
6 0.851 0.080 12 52904822 missense variant A/G;T snv 1.7E-03; 4.0E-06 0.010 < 0.001 1 2004 2004
dbSNP: rs950318
rs950318 		1 3 80354036 intergenic variant C/G snv 0.22 0.010 < 0.001 1 2014 2014
dbSNP: rs11554495
rs11554495
KRT8
19 0.701 0.240 12 52904798 missense variant C/A snv 4.9E-03 5.4E-03 0.020 0.500 2 2004 2014
dbSNP: rs1183194405
rs1183194405
F2
19 0.716 0.440 11 46719773 missense variant G/A;T snv 4.5E-06; 4.5E-06 0.020 0.500 2 2002 2008
dbSNP: rs1239681664
rs1239681664
ABCA1
15 0.716 0.320 9 104818690 synonymous variant A/G snv 7.0E-06 0.020 0.500 2 2006 2007
dbSNP: rs2501432
rs2501432
CNR2
16 0.716 0.480 1 23875430 missense variant T/C;G snv 0.62 0.020 0.500 2 2014 2019
dbSNP: rs35761398
rs35761398
CNR2
19 0.701 0.520 1 23875429 missense variant TT/CC mnv 0.020 0.500 2 2014 2019
dbSNP: rs601338
rs601338
FUT2 ; LOC105447645
19 0.742 0.280 19 48703417 stop gained G/A snv 0.38 0.45 0.020 0.500 2 2012 2019
dbSNP: rs763780
rs763780
IL17F
87 0.531 0.720 6 52236941 missense variant T/C snv 6.7E-02 6.6E-02 0.020 0.500 2 2008 2017
dbSNP: rs879761216
rs879761216
CNR2
14 0.732 0.480 1 23875429 frameshift variant TT/C;T delins 0.020 0.500 2 2014 2019
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.050 0.600 5 2005 2016