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: rs2294008
rs2294008
PSCA ; JRK
28 0.672 0.320 8 142680513 5 prime UTR variant C/T snv 0.46 0.45 0.020 1.000 2 2013 2016
dbSNP: rs1042194
rs1042194
CYP2C18
2 1.000 0.040 10 94735727 3 prime UTR variant G/C;T snv 0.010 1.000 1 2013 2013
dbSNP: rs10505799
rs10505799 		2 1.000 0.040 12 16293334 intergenic variant T/C snv 0.10 0.010 1.000 1 2013 2013
dbSNP: rs11730059
rs11730059 		4 0.925 0.120 4 87966175 intergenic variant A/G snv 0.93 0.010 1.000 1 2017 2017
dbSNP: rs11730582
rs11730582
SPP1
10 0.807 0.240 4 87975269 non coding transcript exon variant T/C snv 0.37 0.010 1.000 1 2017 2017
dbSNP: rs1179251
rs1179251
IL22 ; LOC105369818
14 0.763 0.320 12 68251271 intron variant C/G snv 0.18 0.010 1.000 1 2016 2016
dbSNP: rs121912664
rs121912664
TP53
44 0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 0.010 1.000 1 2011 2011
dbSNP: rs13361707
rs13361707
PRKAA1
7 0.882 0.120 5 40791782 intron variant C/T snv 0.31 0.010 1.000 1 2017 2017
dbSNP: rs199907548
rs199907548
CDKN2A
5 0.882 0.160 9 21974682 missense variant A/C;G snv 6.3E-04 0.010 1.000 1 2012 2012
dbSNP: rs2066842
rs2066842
NOD2
15 0.763 0.200 16 50710713 missense variant C/A;T snv 4.0E-06; 0.19 0.010 1.000 1 2010 2010
dbSNP: rs2075820
rs2075820
NOD1
10 0.790 0.200 7 30452621 missense variant C/T snv 0.27 0.28 0.010 1.000 1 2010 2010
dbSNP: rs2709800
rs2709800
NOD1
4 0.882 0.120 7 30473155 intron variant A/C snv 0.53 0.010 1.000 1 2015 2015
dbSNP: rs2853744
rs2853744
SPP1
4 0.882 0.200 4 87975096 non coding transcript exon variant G/T snv 0.14 0.010 1.000 1 2017 2017
dbSNP: rs2910164
rs2910164
MIR146A ; MIR3142HG
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.010 < 0.001 1 2013 2013
dbSNP: rs3731249
rs3731249
CDKN2A
23 0.683 0.320 9 21970917 missense variant C/A;G;T snv 2.1E-02 0.010 1.000 1 2012 2012
dbSNP: rs4072037
rs4072037
MUC1
22 0.732 0.240 1 155192276 splice acceptor variant C/A;T snv 0.59 0.010 1.000 1 2017 2017
dbSNP: rs4833095
rs4833095
TLR1
28 0.662 0.480 4 38798089 missense variant T/C snv 0.38 0.44 0.010 1.000 1 2015 2015
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 < 0.001 1 2007 2007
dbSNP: rs6833161
rs6833161 		1 4 87968453 intergenic variant T/C snv 0.47 0.010 1.000 1 2017 2017
dbSNP: rs6878265
rs6878265 		2 1.000 0.040 5 120069960 intergenic variant C/T snv 0.29 0.010 1.000 1 2013 2013
dbSNP: rs718226
rs718226
LOC102724907
4 0.882 0.120 16 50735652 intron variant A/G snv 0.36 0.010 1.000 1 2015 2015
dbSNP: rs771184127
rs771184127
NOD2
9 0.790 0.200 16 50710807 missense variant G/A snv 1.2E-05 2.1E-05 0.010 < 0.001 1 2007 2007
dbSNP: rs895819
rs895819
LOC284454 ; MIR23A ; MIR24-2 ; MIR27A
46 0.623 0.560 19 13836478 non coding transcript exon variant T/A;C;G snv 0.34 0.38 0.010 < 0.001 1 2013 2013
dbSNP: rs9841504
rs9841504
ZBTB20
7 0.827 0.120 3 114643917 intron variant C/G;T snv 0.010 1.000 1 2017 2017