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: rs1917799
rs1917799 		4 0.851 0.120 10 49542929 upstream gene variant A/C snv 0.25 0.020 1.000 2 2014 2017
dbSNP: rs6498486
rs6498486
ERCC4
8 0.776 0.200 16 13919809 upstream gene variant A/C snv 0.27 0.010 1.000 1 2013 2013
dbSNP: rs7749023
rs7749023 		1 1.000 0.040 6 42093995 non coding transcript exon variant A/C;T snv 0.010 1.000 1 2017 2017
dbSNP: rs158916
rs158916
NDUFAF2
3 0.882 0.080 5 60949318 intron variant A/G snv 0.15 0.020 1.000 2 2015 2017
dbSNP: rs2301756
rs2301756
PTPN11
4 0.851 0.120 12 112452972 intron variant A/G snv 0.21 0.020 1.000 2 2009 2009
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: 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: 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: rs3814896
rs3814896
TFF2 ; LOC105372815
3 0.882 0.080 21 42351602 upstream gene variant A/G snv 0.17 0.010 1.000 1 2013 2013
dbSNP: rs7747696
rs7747696 		1 1.000 0.040 6 42093217 non coding transcript exon variant A/G snv 0.54 0.010 1.000 1 2017 2017
dbSNP: rs6672420
rs6672420
RUNX3 ; LOC105376878
6 0.827 0.120 1 24964519 missense variant A/T snv 0.56 0.50 0.010 < 0.001 1 2009 2009
dbSNP: rs760805
rs760805
RUNX3 ; LOC107984932
9 0.776 0.240 1 24925432 intron variant A/T snv 0.42 0.010 1.000 1 2009 2009
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: rs629367
rs629367
MIR100HG ; MIRLET7A2
11 0.776 0.200 11 122146306 intron variant C/A snv 0.88 0.010 1.000 1 2014 2014
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: 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: 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: rs4711690
rs4711690
PGC
3 0.882 0.080 6 41741200 missense variant C/G snv 0.19 0.20 0.010 1.000 1 2013 2013
dbSNP: rs3789210
rs3789210
PGC
3 0.882 0.080 6 41743584 intron variant C/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs765803011
rs765803011
IL4R
1 1.000 0.040 16 27363094 missense variant C/G;T snv 4.0E-06; 1.6E-05 0.010 1.000 1 2006 2006
dbSNP: rs2294008
rs2294008
PSCA ; JRK
28 0.672 0.320 8 142680513 5 prime UTR variant C/T snv 0.46 0.45 0.720 1.000 3 2013 2019
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: 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: 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