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: rs1002765
rs1002765
CHMP2B ; MIR4795
4 0.851 0.080 3 87227912 intron variant G/A;C snv 0.010 1.000 1 2016 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: 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 2010 2010
dbSNP: rs10983755
rs10983755 		7 0.790 0.320 9 117702392 upstream gene variant G/A snv 3.2E-02 0.010 1.000 1 2014 2014
dbSNP: rs1130233
rs1130233
AKT1
13 0.742 0.480 14 104773557 synonymous variant C/T snv 0.30 0.23 0.010 1.000 1 2015 2015
dbSNP: rs11536878
rs11536878
TLR4
5 0.827 0.240 9 117709275 intron variant C/A snv 9.5E-02 0.010 < 0.001 1 2014 2014
dbSNP: rs121224
rs121224
MIR365B ; MIR4725
4 0.851 0.080 17 31574981 intron variant G/C snv 0.66 0.010 < 0.001 1 2016 2016
dbSNP: rs121434254
rs121434254
AIRE
6 0.807 0.200 21 44289773 stop gained C/A;T snv 7.5E-04 0.010 1.000 1 2001 2001
dbSNP: rs12229892
rs12229892
PTPN11
6 0.807 0.240 12 112485589 intron variant G/A snv 1.4E-02 0.010 1.000 1 2013 2013
dbSNP: rs12423190
rs12423190
PTPN11
1 1.000 0.040 12 112471536 intron variant T/C snv 8.7E-02 0.010 1.000 1 2012 2012
dbSNP: rs1440526066
rs1440526066
IL4 ; LOC105379176
1 1.000 0.040 5 132679827 missense variant G/A snv 0.010 1.000 1 2006 2006
dbSNP: rs1695
rs1695
GSTP1
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2018 2018
dbSNP: rs17276588
rs17276588
HUWE1 ; MIRLET7F2 ; MIR98
4 0.882 0.120 X 53557457 intron variant G/A snv 9.0E-02 4.2E-02 0.010 1.000 1 2014 2014
dbSNP: rs1800871
rs1800871
IL10 ; IL19
108 0.508 0.800 1 206773289 5 prime UTR variant A/G snv 0.69 0.010 1.000 1 2018 2018
dbSNP: rs1886753
rs1886753
TDRG1
1 1.000 0.040 6 40359357 non coding transcript exon variant C/T snv 0.42 0.010 1.000 1 2017 2017
dbSNP: rs2014486
rs2014486
MUC5B
2 1.000 0.040 11 1237573 intron variant A/G snv 0.52 0.010 1.000 1 2012 2012
dbSNP: rs2029298
rs2029298
DDB2
3 0.882 0.080 11 47213167 upstream gene variant C/T snv 0.62 0.010 1.000 1 2016 2016
dbSNP: rs2094258
rs2094258
ERCC5 ; BIVM-ERCC5
20 0.701 0.280 13 102844409 intron variant C/T snv 0.18 0.010 1.000 1 2018 2018
dbSNP: rs2297518
rs2297518
NOS2
30 0.658 0.480 17 27769571 missense variant G/A snv 0.18 0.17 0.010 1.000 1 2008 2008
dbSNP: rs254942
rs254942
ERCC4
3 0.882 0.080 16 13932150 splice region variant G/A;C;T snv 0.97; 4.0E-06; 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs2607775
rs2607775
XPC ; LSM3
8 0.807 0.160 3 14178595 5 prime UTR variant C/G snv 0.42 0.43 0.010 1.000 1 2016 2016
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 1.000 1 2011 2011
dbSNP: rs326222
rs326222
DDB2
3 0.882 0.080 11 47238117 intron variant T/C snv 0.60 0.58 0.010 1.000 1 2016 2016
dbSNP: rs3781619
rs3781619
DDB2
3 0.882 0.080 11 47233766 intron variant G/A snv 0.26 0.010 1.000 1 2016 2016