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: rs1556620697
rs1556620697
SH2D1A ; STAG2
10 0.827 0.360 X 124365758 splice region variant C/G snv 0.700 0
dbSNP: rs1052133
rs1052133
OGG1 ; CAMK1
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.010 1.000 1 2011 2011
dbSNP: rs1136410
rs1136410
PARP1
70 0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15 0.010 1.000 1 2011 2011
dbSNP: rs121918338
rs121918338
CARD9
7 0.807 0.160 9 136370362 stop gained G/A snv 1.2E-05 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1365483160
rs1365483160
KYAT1
1 1.000 0.040 9 128836915 missense variant G/A snv 0.010 1.000 1 2011 2011
dbSNP: rs1732778
rs1732778 		5 0.882 0.080 12 113019120 upstream gene variant G/A snv 0.22 0.010 1.000 1 2010 2010
dbSNP: rs17576
rs17576
MMP9
73 0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36 0.010 1.000 1 2018 2018
dbSNP: rs2067085
rs2067085
NOD2
1 1.000 0.040 16 50699948 synonymous variant C/A;G snv 4.1E-06; 0.33 0.010 1.000 1 2016 2016
dbSNP: rs2072136
rs2072136
OAS3
6 0.851 0.120 12 112961114 synonymous variant G/A;C snv 0.31; 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs2285932
rs2285932
OAS3
5 0.851 0.120 12 112949145 synonymous variant T/C snv 0.76 0.78 0.010 1.000 1 2010 2010
dbSNP: rs2287886
rs2287886
CD209
9 0.776 0.280 19 7747650 upstream gene variant A/G;T snv 0.66 0.010 1.000 1 2012 2012
dbSNP: rs4251552
rs4251552
IRAK4
1 1.000 0.040 12 43787338 3 prime UTR variant A/G snv 4.7E-02 0.010 1.000 1 2016 2016
dbSNP: rs5743704
rs5743704
TLR2
9 0.763 0.240 4 153704799 missense variant C/A snv 2.8E-02 2.8E-02 0.010 1.000 1 2010 2010