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: rs1012068
rs1012068
DEPDC5
5 0.827 0.160 22 31869917 intron variant T/G snv 0.37 0.800 1.000 1 2011 2011
dbSNP: rs10776934
rs10776934 		1 1.000 0.080 9 135137855 regulatory region variant T/G snv 0.74 0.800 1.000 1 2012 2012
dbSNP: rs10789491
rs10789491
EFCAB14
1 1.000 0.080 1 46713638 intron variant A/G snv 0.80 0.800 1.000 1 2012 2012
dbSNP: rs11697186
rs11697186
DDRGK1
1 1.000 0.080 20 3204477 intron variant A/C;T snv 7.0E-02 0.800 1.000 1 2011 2011
dbSNP: rs6139030
rs6139030
ITPA
1 1.000 0.080 20 3207087 upstream gene variant T/C snv 8.6E-02 0.800 1.000 1 2011 2011
dbSNP: rs7270101
rs7270101
ITPA
10 0.776 0.200 20 3213247 intron variant A/C snv 8.7E-02 9.7E-02 0.800 1.000 1 2010 2010
dbSNP: rs9275572
rs9275572 		15 0.724 0.360 6 32711222 upstream gene variant A/G;T snv 0.800 1.000 1 2013 2013
dbSNP: rs965469
rs965469
C20orf194
1 1.000 0.080 20 3400902 intron variant T/C snv 0.20 0.800 1.000 1 2012 2012
dbSNP: rs12972991
rs12972991 		1 1.000 0.080 19 39241107 upstream gene variant A/C snv 0.19 0.700 1.000 1 2009 2009
dbSNP: rs12980602
rs12980602 		1 1.000 0.080 19 39262180 upstream gene variant T/C snv 0.25 0.700 1.000 1 2009 2009
dbSNP: rs1863918
rs1863918
ADAMTS2
4 0.882 0.160 5 179112381 3 prime UTR variant G/T snv 0.25 0.700 1.000 1 2016 2016
dbSNP: rs2071286
rs2071286
NOTCH4
12 0.752 0.280 6 32212119 intron variant C/T snv 0.17 0.700 1.000 1 2014 2014
dbSNP: rs2779180
rs2779180
PLIN3
1 1.000 0.080 19 4841139 intron variant A/G snv 0.37 0.700 1.000 1 2016 2016
dbSNP: rs28416813
rs28416813
IFNL3
1 1.000 0.080 19 39245004 5 prime UTR variant C/G snv 0.31 0.39 0.700 1.000 1 2009 2009
dbSNP: rs4803223
rs4803223 		1 1.000 0.080 19 39255579 upstream gene variant A/G snv 0.13 0.700 1.000 1 2009 2009
dbSNP: rs5998152
rs5998152
DEPDC5
5 0.827 0.160 22 31867176 intron variant T/C snv 0.37 0.700 1.000 1 2011 2011
dbSNP: rs8103142
rs8103142
IFNL3
4 0.882 0.120 19 39244466 missense variant T/C snv 0.29 0.40 0.700 1.000 1 2009 2009
dbSNP: rs8109886
rs8109886 		1 1.000 0.080 19 39252122 upstream gene variant C/A snv 0.53 0.700 1.000 1 2009 2009
dbSNP: rs9461776
rs9461776
HLA-DRB1
11 0.763 0.240 6 32607958 intergenic variant A/G snv 8.8E-02 0.700 1.000 1 2014 2014
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2018 2018
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 2019 2019
dbSNP: rs10741657
rs10741657
CYP2R1
34 0.637 0.520 11 14893332 upstream gene variant A/G snv 0.65 0.010 1.000 1 2013 2013
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
dbSNP: rs10877012
rs10877012
CYP27B1 ; METTL1
10 0.763 0.280 12 57768302 intron variant G/C;T snv 0.010 1.000 1 2012 2012
dbSNP: rs1126579
rs1126579
CXCR2
8 0.776 0.200 2 218136011 3 prime UTR variant T/C snv 0.62 0.010 1.000 1 2018 2018